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Odontomas are nonaggressive, hamartomatous developmental malformations or lesions of odontogenic origin, which consist of enamel, dentin, cementum and pulpal tissue ‘Erupted odontoma’ is a term used to specifically denote odontomas, which are exposed into the oral cavity. These are rare entities with only 25-30 cases being reported so far in the dental literature. Here, we present a rare case of an erupted odontoma in an adolescent patient who came with a complaint of bad aesthetics due to the presence of multiple small teeth like structures in the upper front teeth region.

Orbital vascular lesions include a spectrum of disorders that have in common one or more of the cellular components of blood vessels: endothelial cells, pericytes, and smooth muscle cells. Beyond that, there are major differences in their frequency, clinical presentation, morbidity, and management. In addition to the local mass effect and possible systemic implications that characterize any orbital tumor, the hemodynamic relationships of orbital vascular lesions influence their clinical behavior and dictate their appropriate management. Whereas every lesion has an intrinsic blood supply to meet its own metabolic needs, some are more closely integrated into the systemic vasculature and convey considerably more blood than needed for their own sustenance. We prefer to divide vascular lesions between two major categories: developmental malformations and neoplastic proliferations (Table 1). The cellular complement and basic structure of developmental malformations are present at birth, and growth occurs by expansion. The neoplasms, on the other hand, enlarge by proliferation of their component vascular units or predominant cell of origin.

The most common, primary referrals to a pediatric neurosurgeon's office are the evaluation and management of the child with a large head (to rule out hydrocephalus and other space occupying lesions) a mishappen head (to rule out various forms of craniosynostosis), or some form of congenital spinal abnormality (spinal dysraphism). The authors discuss the pathogenesis and clinical features of these disorders, provide a framework for diagnostic evaluation and referral, and discuss the various treatment options available for each.

CLASSIFICATION OF THE DIFFICULT AIRWAY A difficult airway (DA) is one in which there is a problem establishing or maintaining gas exchange via a mask, an artificial airway, or both. A wide range of pathologic conditions, including developmental malformations, inflammatory lesions, endocrine and metabolic disorders, infections, trauma, and structural problems (e.g., foreign body or intrinsic or extrinsic masses), occur in a large number of anatomic locations (head, neck, spine, face, oral cavity, larynx, subglottic region, trachea) and can cause a DA. Familiarity with disease states and common syndromes increases one’s ability to recognize a DA in children and will lead to appropriate preparation and management of the airway. The anomalies complicating airway management in pediatric patients can be categorized in different ways. In this article, the DA is classified according to the anatomic region of the airway affected. With certain disease states, the DA may be due to involvement of multiple anatomic structures. Table 1 lists conditions that may be associated with airway problems in pediatric patients. It is beyond the scope of this article to discuss each of these disease states, but some of them are detailed in other articles in this issue. Important references are added where possible.

This special issue encompasses articles dealing with a number of unique features of the vertebrate visual system. These characteristics make it an established model to study the molecular and genetic control of axonal growth, neurogenesis, gliogenesis and regeneration in the central nervous system. The clinical relevance of developmental malformations and age-related diseases is briefly described. The possible effects of visual inputs on melatonin secretion and changes in this system during aging are summarized.

Odontomas are hamartomatous developmental malformations of the dental tissues. We present a retrospective study of recent clinical experience using erbium-doped yttrium aluminum garnet (Er:YAG) (wavelength 2940 nm) and chromium-doped yttrium scandium gallium garnet lasers (Er,Cr:YSSG) (wavelength 2780 nm) for the surgical treatment of these lesions, and score postsurgical pain.This retrospective study comprised 35 odontomas treated at the Department of Oral Pathology and Laser-Assisted Surgery, San Martino Hospital, University of Genoa, Italy. Of 35 Caucasian patients (23 male, 12 female; ages 8-35; odontomas localized at various oral subsites) those in Group 1 (n=25) had odontomas excised by laser (Er:YAG laser operating at 2940 nm, pulse width 100 msec, curved handpiece, truncated cone HPX tip, 400 μm with energy output 250-400 mJ per pulse, frequency 15 Hz; and Er, Cr: YSGG laser, power 3.5 W, frequency 20 Hz, 55% air/45% water spray, H (hard tissue) mode, pulse width 190-750 μsec variable). In Group 2 (n=10) odontomas were excised by conventional surgery. Pain was assessed using a visual analog scale (VAS). Clinical outcome was determined at 6-12 months.Complete responses were achieved in 100% of the laser-treated odontomas, which compares favorably with reported results of conventional surgery. A statistically significant difference in VAS score was found between patients treated with traditional scalpel surgery (median=4.00) and those who underwent laser surgery (median=3.00).In treating odontomas, a laser surgery protocol effectively minimizes pain, maintains an excellent clinical outcome, and requires minimal additional treatment time compared with conventional surgery.

Congenital anomalies of the kidneys and urinary tract (CAKUT) encompass a broad range of developmental malformations of the kidney and the lower urinary tract. The many malformations are now detected by fetal ultrasound screening, but cases may still present for the first time in childhood with symptoms of failure to thrive or during investigation of urinary tract infection. In adults developmental abnormalities may still present with abnormal urinalysis, renal stones, hypertension or chronic kidney disease or as an incidental finding.

The human peroxisome biogenesis disorders (PBD) are caused by autosomal recessive mutations in any of the 14 PEX genes, which encode peroxins, or PEX proteins, that act cooperatively to assemble functional peroxisomes. Mutations in PEX genes affect the import of peroxisome matrix enzymes and formation of new peroxisomes. The consequences are multiple enzyme deficiencies causing developmental malformations and progressive postnatal tissue injury. The PBD are classified into two distinct groups: Zellweger spectrum disorders (ZSD) and Rhizomelic Chondrodysplasia Punctata spectrum type 1 (RCDP1). The term “spectrum” is preferred because there is a gradation of phenotypes from severe to mild in these disorders, as well as newly recognized atypical phenotypes. In general, the milder the phenotype, the greater are the residual functions of the defective peroxin.

The aim of this study was to determine the incidence of congenital malformations of the lumbosacral transitional vertebrae in the general population, and the differences in their gender and left/right distributions.The examined group comprised of all patients who underwent a pelvic X-ray during 2010 for any reason. The observed parameters included the following malformations: the presence of megatransversus at L5; sacralization of L5 or L6; a S1 lumbarization; the presence of six sacral vertebrae; or spina bifida at the level of L5, S1 or S2. In cases of megatransversus at L5, the lateral distribution was recorded. A total of 1,513 images were evaluated. Sex and lateral differences were evaluated using the Pearson's (χ (2)) test with a significance level of 5 %.A total of 478 malformations were found in 417 patients, which constituted 27.6 % of the entire group. Malformations occurred in 250 women (25.4 % of all women) and 167 men (31.6 % of all men) and the female to male ratio in affected individuals was 1.5:1. The predominance of the occurrence of malformations observed in men was statistically significant (p = 0.009). The most frequently occurring malformations were the presence of six sacral vertebrae (179 patients) and megatransversus at L5 (150 patients). The study confirmed a high incidence of congenital malformations in the area of the lumbosacral transitional vertebrae and demonstrated a higher incidence in males. Unilaterally occurring megatransversus at L5 was significantly more common on the left side.

Cilia mediate Hedgehog (Hh) signaling in vertebrates and Hh deregulation results in several clinical manifestations, such as obesity, cognitive disabilities, developmental malformations, and various cancers. Drosophila cells are nonciliated during development, which has led to the assumption that cilia-mediated Hh signaling is restricted to vertebrates. Here, we identify and characterize a cilia-mediated Hh pathway in Drosophila olfactory sensory neurons. We demonstrate that several fundamental key aspects of the vertebrate cilia pathway, such as ciliary localization of Smoothened and the requirement of the intraflagellar transport system, are present in Drosophila. We show that Cos2 and Fused are required for the ciliary transport of Smoothened and that cilia mediate the expression of the Hh pathway target genes. Taken together, our data demonstrate that Hh signaling in Drosophila can be mediated by two pathways and that the ciliary Hh pathway is conserved from Drosophila to vertebrates. At the time for thesis presentation publication was in status: Manuscript

Neurenteric cysts in the central nervous system are rare developmental malformations. Usually the cysts are located ventral to the high thoracic or low cervical spinal cord. Only a few cases of intracranial neurenteric cysts have been reported in the literature to date. We report two cases of intracranial neurenteric cysts in the cerebellopontine angle with totally different radiographic, macroscopic, and microscopic appearance. As seen in these cases, the imaging spectrum of neurenteric cysts can be diverse, including malignancy-suspecting partial rim-enhancement or low-grade glioma features. Microsurgical therapy should include endoscopic assistance to ensure complete removal of cyst content.

OBJECTIVE. MRI and CT have become the ideal methods for assessing the complex function of the conotruncal region, including the right ventricular outflow tract (RVOT). In this review, we focus on the role of CT and MRI to evaluate RVOT function in relation to developmental malformations. CONCLUSION. We discuss the role of imaging pertinent to electrophysiologic assessment for cardiac arrhythmias. The RVOT is an important ablation target for radiofrequency ablation of ventricular tachycardia. Architectural changes of the myocardial strands in the RVOT, scar, and fibrofatty tissue may play a role in the development of RVOT ventricular arrhythmias. With CT and MRI, some of these changes can be revealed.

Epidermoids or epidermal inclusion cysts are developmental malformations rarely seen in the oral cavity. They are a histological variant of lesions broadly termed as dermoid cysts. The case discussed here stands out not only due to its unique clinical presentation which can put a clinician in a diagnostic dilemma but also because of its anatomical variation upon surgical exploration which can add to the conundrum.

Bone graft options are reviewed for various sites in the craniofacial skeleton, as are the mechanical and physiologic requirements for different recipient sites. The potential for complications is discussed, as are the prevention and treatment of complications.

Hairy polyps are uncommon developmental malformations of the oropharynx. They are frequently pedunculated and can cause respiratory distress in the neonate. Hairy polyps are usually diagnosed with MRI but can be well seen at US. To our knowledge, the sonographic features have not been previously reported.

Background: Cavernous hemangiomas are benign vascular hamartomas caused by developmental malformations of the vascular bed. They can be found in 0.3–0.7% of the population, whereas one fourth of these lesions occur in children. Methods: In the present study, we report on 16 cases of cavernomas surgically treated in our institute. From each patient’s file, the age, sex, lesion location, symptoms and follow-up were analyzed. Results: The most commonly presenting symptom was epilepsy. Radiological signs of acute hemorrhage were observed in 3 cases. Three children had multiple cavernomas. The parietal lobe was the most common site of occurrence, whereas only 2 cavernomas were infratentorial. There was no operative mortality. Postoperatively, there was no additional neurological deficit, and all patients gradually improved. In a case of pontine cavernoma, there was a need for reoperation due to rebleeding. Conclusion: With the improvement of microsurgical techniques and modern neuroimaging, nearly all cavernomas can be safely removed. Total resection is associated with patients’ clinical improvement and seizure control.

Hemifacial microsomia (HFM) represents a spectrum of congenital malformations involving embryological derivatives of the first and second branchial arches. The multiple anomalies that may exist in HFM present considerable variability in patients with the diagnosis. Numerous classification systems have been devised to facilitate the individualized components of this complex condition. Because multiple HFM classification systems exist, their utility is frequently confusing and selection of a particular system is indeterminate. Several of the better known systems are evaluated using patients with variable expressivity of HFM. This review suggests that there currently exists no ideal classification system for this association of developmental malformations. The systems that were found to be most complete are acknowledged and recommendations or modifications are suggested.

Introduction. The theoretical and practical aspects of teaching are generally defined by the curriculum, but professional experience plays an important role as well. The teaching experience of the faculty members is developed through health services, education and research. The Department of Histology and Embriology. This paper reviews the activities of the teaching staff of the Department of Histology and Embryology, pointing to the importance of pathologic diagnostics and research. It underlines the necessity of using some non-standard histologic staining methods on some tissues, organs and pathogens, as well as the results of experimental studies of the endocrine system. The experimental tumor models are used to demonstrate the interdependence of the endocrine and immune systems. Modalities and possibilities of regeneration of the digestive tract and connective tissue mucosa are explained. This paper also deals with histologic criteria used for assessment of fetal age and in the diagnosis of developmental malformations. Linear and stereologic methods, used in quantification of normal morphology, the degree of pathologic changes, and regeneration of normal structures in the courses of and after therapy, are given. The authors particularly emphasized the importance of abovementioned activities in the teaching of Histology and Embryology to undergraduate students.

Preliminary studies suggest that alpha[ 11 C]methyl-l-tryptophan positron emission tomography can detect the epileptic focus within malformations of cortical development. We determined the sensitivity and specificity of alpha-[ 11 C]methyl-l-tryptophan positron emission tomography in identifying epileptic focus in children with intractable, neocortical epilepsy with and without malformations of cortical development. Seventy-three epileptic children were classified into lesional and nonlesional groups, and compared regarding focal increased alpha-[ 11 C]methyl-l-tryptophan uptake. The sensitivity and specificity of focal increased alpha-[ 11 C]methyl-l-tryptophan uptake, using intracranial electroencephalogram localization of seizure onset as the standard, were compared between lesional and nonlesional groups. The specificity of alpha-[ 11 C]methyl-l-tryptophan positron emission tomography for detecting seizure onset lobe was equally high in lesional (97%) and nonlesional groups (100%), whereas sensitivity was higher in the lesional than the nonlesional group (47% versus 29%; P = 0.047). The incidence of alpha-[ 11 C]methyl-l-tryptophan uptake abnormality was higher in the lesional than the nonlesional group ( P 0.01). Alpha-[ 11 C]methyl-l-tryptophan positron emission tomography localized and visualized epileptogenic regions in 25% of patients with nonlocalizing magnetic resonance imaging. Although overall sensitivity of alpha-[ 11 C]methyl-l-tryptophan positron emission tomography in identifying neocortical epileptic focus is modest, specificity is extremely high. When an alpha-[ 11 C]methyl-l-tryptophan focus is detected, it likely represents the epileptogenic region to be resected.

Lymphangiomas are benign hamartomas of lymphatic channels mostly present as developmental malformations arising due to sequestration of lymphatic tissues not communicating with patented lymph channel. They are generally congenital and more frequently diagnosed in childhood but rarely do they occur in adults. In head and neck region, they have a high predilection for occurrence in tongue followed by lips . This article describes a case report of lymphangioma of lip in the light of current information with clinical and histological aspect in a young patient, which was successfully treated with carbon dioxide laser.

Double teeth are developmental malformations affecting both primary and permanent dentition. This article describes primary double teeth in both the siblings of a family. A 5-year-old boy had a bilateral distribution of anomaly involving lower lateral incisor and canine. Radiographic analysis revealed that his right mandibular permanent lateral incisor was missing. His sister, a 3½-year-old girl, also had double teeth affecting mandibular left lateral incisor and canine. She displayed no other dental anomaly. The boy presented shovel-shaped maxillary permanent central incisors. Family involvement of double teeth is very rare. Double teeth in siblings and simultaneous occurrence of multiple dental anomalies probably show a hereditary etiology.

Bone grafts in maxillofacial surgery are used to correct or replace missing bone. Bone defects can either be the consequences of congenital and developmental malformations or originate from tumor surgery, trauma, or infections. There are many indications for bone grafts in cosmetic surgery as well.

The fundamental cause or causes of schizophrenia are unknown in a majority of cases. As accepted by most neurologists, developmental disorders include a diversity of developmental malformations and diseases acquired during the intrauterine period of life (Adams and Victor 1977). In contrast degenerative disorders include “an inexplicable decline from a previous level of normalcy to a lower level of function” (Adams and Victor 1977). A change in our understanding of the etiology of many genetic, metabolic, toxic, and nutritional disorders has changed the definition of some disorders formerly deemed degenerative to one or more of these designations. What about schizophrenia? Clinical and pharmacological data suggest that schizophrenia results from an imbalance between specific excitatory and inhibitory systems in specific brain regions that occurs most frequently but not exclusively during adolescence and young adult life (Stevens 2002).

Purpose: To determine the effects of focal cortical dysplasia on the behavioral and electrographic features of hyperthermia-induced seizures (HSs) in rats. Methods: A right sensorimotor cortex freeze lesion was induced in postnatal day 1 (P1) rat pups, and HSs were provoked at P10 under continuous monitoring of core temperatures EEGs were recorded from the right amygdala during and after hyperthermia. Controls included both sham-operated at PI and naive rats. Results: HSs began with jaw myoclonus, followed by hindlimb clonus and generalized convulsions (GCs), and terminated by a period of posthyperthermia depression. The threshold temperature and latency of jaw myoclonus were similar across the groups. However, both the threshold temperature and latency of GCs were significantly lower in lesioned pups than in controls (40.5 +/- 0.5degreesC, n = 24, vs. 42.0 +/- 0.2degreesC, n = 2 1; p < 0.001; 6.7 &PLUSMN; 0.6 min, n = 20, vs. 8.4 &PLUSMN; 0.6 min, n = 22; p < 0.05). In lesioned pups, the threshold and latencies for jaw myoclonus and hindlimb clonus were similar, whereas in controls, the progression from one to the other was marked by significant differences in both parameters. Posthyperthermia depression was longer in lesioned (13.3 +/- 1.2 min, n = 21) than in control (8.0 +/- 0.8 min, n = 20; p < 0.0001) pups. Ictal EEG activity was recorded during both behavioral seizures and posthyperthermia depression. Conclusions: An HS in rats with a localized freeze lesion results in lower threshold GC and prolonged ictal manifestations, thus supporting a pathophysiologic link between focal cortical dysplasia and atypical febrile seizures, conditions that have a high prevalence in children with mesial temporal lobe epilepsy. Epilepsia

Cerebral developmental malformations are increasingly recognized as a cause of epilepsy. Magnetic resonance imaging (MRI) has advanced our understanding of these disorders and their relation to epilepsy. We report the occurrence of discordant unilateral heterotopia and epilepsy in monozygotic twins. The affected individual developed intractable focal seizures at age 16 years. Mild cognitive difficulties had been present in early life. Evaluation showed right hemisphere EEG epileptogenic abnormalities, and the MRI scan showed massive right hemisphere heterotopia. EEG and MRI examinations in the patient's twin brother were normal. These findings suggest that the development of some developmental brain malformations and epilepsy is strongly influenced by nongenetic factors such as an environmental insult.

Odontomas are nonaggressive, hamartomatous developmental malformations composed of mature tooth substances and may be compound or complex depending on the extent of morphodifferentiation or on their resemblance to normal teeth. Among them, complex odontomas are relatively rare tumors. They are usually asymptomatic in nature. Occasionally, these tumors become large, causing bone expansion followed by facial asymmetry. Odontoma eruptions are uncommon, and thus far, very few cases of erupted complex odontomas have been reported in the literature. Here, we report the case of an unusually large, painless, complex odontoma located in the right posterior mandible.

Lymphangioma is a congenital benign tumor caused by developmental malformations of the lymphatic system. These lesions are generally recognized at birth or in early childhood. The most common location is the head and neck region. Lymphangioma of the epididymis is very unusual as its occurrence in the adult age group. The correct diagnosis is essential for proper management. We report an unusual case of epididymal lymphangioma in a 46-year-old male presenting as a painful retrotesticular mass.

Genomic imprinting in gametogenesis marks a subset of mammalian genes for parent-of-origin-dependent monoallelic expression in the offspring. Embryological and classical genetic experiments in mice that uncovered the existence of genomic imprinting nearly two decades ago produced abnormalities of growth or behavior, without severe developmental malformations. Since then, the identification and manipulation of individual imprinted genes has continued to suggest that the diverse products of these genes are largely devoted to controlling pre- and post-natal growth, as well as brain function and behavior. Here, we review this evidence, and link our discussion to a website (http://www.otago.ac.nz/IGC) containing a comprehensive database of imprinted genes. Ultimately, these data will answer the long-debated question of whether there is a coherent biological rationale for imprinting.

Publisher Summary Magnetic resonance spectroscopy (MRS) is a research method, involving chemically specific, noninvasive measurement of certain compounds in living tissue. It is possible to study human tissues that are inaccessible except by invasive techniques. In the human brain, phosphate energy stores, intra-cellular pH, lactate concentration, and the neuronal marker N-acetylaspartate (NAA) are examples of MRS-measurable variables and cannot be studied easily by any other technique. In this chapter, the four major resonances in water-suppressed, localized magnetic resonance (MR) spectra of normal human brain at “long” echo times are discussed. Evidence supports the use of NAA as a neuronal marker. It is found exclusively in neurons and their processes in the mature brain. In the human brain spectra, in vivo NAA is reduced in situations associated with neuronal loss. The application of MRS in cerebral disorders is done to quantify neuronal loss or damage. Creatine can be used as an internal standard to normalize resonance intensities of NAA and choline-containing phospholipids (Cho) to correct artifactual variations in signal intensity, because of magnetic field and radiofrequency in homogeneity. Brain lactate is elevated by seizure activity, as demonstrated by the biochemical studies of excised tissue. In vivo animal studies, using proton MRS, has allowed studies on lactate elevation after convulsive seizure. Studies suggest that in situ lactate increase is a marker of the seizure-induced neuronal damage. MRS may be useful for the evaluation of partial epilepsies associated with cortical developmental malformations. Proton MRS has shown NAA signal intensity to be variably normal or abnormal in patients with heterotopias, suggesting that some of the apparently normal neurons are dysfunctional. Magnetic resonance spectroscopy imaging based metabolic abnormalities in patients with cortical developmental malformations are variable and are likely to be associated with complex cellular mechanisms, involving the regulation of NAA, total creatine-phosphocreatine content, Cho, and seizure activity.

Although malformations of cortical development are as old as mankind, paradoxically they are a fast evolving subject in the field of pediatric neuroradiology. The superiority of magnetic resonance (MR) imaging allowed the description of sometimes very subtle abnormalities that remained undetected on cranial computed tomography and has improved our understanding of malformations of the cerebral neocortex.

After a period of coma, some patients enter a vegetative state (Fig. 1). Vegetative state is a clinical condition of ‘wakefulness without awareness’, first defined by Jennet and Plum in 1972 [1]. It can be diagnosed soon after a brain injury and can be partially or totally reversible or it may progress to a persistent vegetative state or death [2]. Table 1 summarizes the criteria for the diagnosis of vegetative state proposed by The American Neurological Association [2] and the American Academy of Neurology [3]. It is important to distinguish between vegetative state, persistent vegetative state, and permanent vegetative state. Persistent vegetative state is arbitrarily coined as a vegetative state present one month after acute traumatic or non-traumatic brain injury or lasting at least one month in patients with degenerative or metabolic disorders or developmental malformations [3] but does not imply irreversibility. Permanent vegetative state implies the prediction that the patient will not recover. It was introduced by the American Multi-Society Task Force on persistent vegetative state [3] in 1994 to denote irreversibility after three months following a non-traumatic brain injury and twelve months after traumatic injury (Fig. 1). However, even after these long and arbitrary delays, some patients may exceptionally recover. Hence, the American Congress of Rehabilitation Medicine advocates abandoning the term ‘permanent’ in favor of simply specifying the length of time patients have spent in a vegetative state [4]. The question which most concerns relatives and doctors caring for patients with vegetative state is whether a recovery is possible.

One of a variety of clinical disorders representing congenital developmental malformations of the lymphatic system, lymphangiomatosis describes the presence of multiple lymphangiomas. It is associated with other lymphatic abnormalities, and 75% of cases involve multiple organs. It most commonly presents in childhood, with predilection for thoracic and neck lesions, with up to 75% of patients having bony involvement. 1

Purpose We examined a child who had atypical Peters' anomaly and partial trisomy 5p. Methods An 11-week-old female infant with multiple developmental malformations and a partial trisomy 5p had bilateral corneal opacities extending from the center of the cornea to the paralimbal region and bilateral iridocorneal adhesions in the areas of the corneal opacities. Results In addition to association with several other chromosomal disorders, Peters' anomaly may be associated with partial trisomy 5 p. Conclusions Since partial trisomy 5p can be diagnosed by genetic evaluation, a chromosomal analysis should be performed for children with Peters' anomaly.

Cerebral developmental malformations are increasingly recognized as a major cause of developmental delay and epilepsy. The incidence of these developmental malformations in patients with epilepsy is not known, but epilepsy surgery data suggest that this pathology is commonly seen in children who undergo epilepsy surgery for intractable epilepsy. These malformations can be diagnosed by a combination of clinical, neurophysiological, and imaging techniques. However, imaging techniques such as MRI have been able to provide in vivo recognition of many of these malformations and have contributed to the recognition of specific syndromes. These malformations can be classified on an anatomical basis either into diffuse, unilateral, or generalized. However, a combination of imaging data in conjunction with genetics and embryology may be more appropriate in the future. Further technical developments promise to increase the sensitivity of MRI in detecting these malformations and may help to delineate the possible biology of these disorders.

Proteus syndrome is a rare congenital hamartomatous condition that is characterised by a wide range of malformations. Skin and skeletal developmental malformations are common and may manifest as significant physical anomalies. However, few reports have discussed surgical treatment. A 37-year-old woman presented with disproportionate enlargement of the right buttock, which required volume reduction. The overgrown tissue was combined with vascular malformations, which in our patient were extremely thick. The patient experienced massive blood loss during the procedure, due to which a blood transfusion was performed. Pathological findings revealed partial lipohyperplasia with venous malformations. Thus, during operations including incomplete excision, massive bleeding is always a possibility, but is not commonly described in these instances.

Osseous choristoma is a rare, benign lesion of the oral cavity occurring usually on the tongue. It appears as a tumorous mass of normal bony structure with mature cells in an ectopic position. Some lesions represent developmental malformations, whereas others may be reactive lesions, after trauma or chronic irritation. This is the first ever reported case of an osseous choristoma of the periodontium in the lingual aspect of posterior mandible.

The cleft anomaly may be more ancient than the man himself. It is one of the most common developmental malformations reported in the literature. There are number of intriguing theories regarding its etiopathogenesis, each of which has some evidence in its favor. This review highlights all the genetic and environmental etiologic factors and focuses on its pathogenesis.

Advances in diagnostic imaging techniques, particularly magnetic resonance (MR) imaging, have permitted the recognition of developmental malformations of the central nervous system with a high degree of accuracy (Barth, 1987; Friede, 1989; Byrd et al., 1989; Barkovich and Kjos, 1992). Recent clinico-radiological correlative studies have demonstrated the broad spectrum of these malformations and have contributed to the recognition that some of these disorders have common pathogenic mechanisms (Graff-Radford et al., 1986; Kuzniecky et al., 1988; Palmini et al, 1991; Barkovich and Kjos, 1992a,b).

Genetic studies in the mouse are crucial for uncovering new genes and signaling pathways associated with development. The identification of murine models with developmental malformations in high-throughput mutagenesis screens is made difficult because, after mid-embryogenesis, the embryo is opaque. Traditional phenotyping methods such as histological sectioning are labor intensive and destructive. We have developed and optimized a novel method for high-throughput multiembryo magnetic resonance imaging (MRI). Here we present our method for processing 32 mouse embryos for analysis by MRI. We describe the MR system, imaging software, and the reconstruction of two-dimensional (2D) and three-dimensional (3D) images. We also discuss the applications of this technique, highlight its advantages, and point out some disadvantages. Using this approach, we can identify developmental malformations in mutant embryos at high spatial resolution (voxel size 25.4 × 25.4 × 24.4 µm). This technique can be easily used for mouse mutagenesis screens and thus provides an important tool for identifying new mouse models for human diseases.

Foregut cystic developmental malformations are rare developmental anomalies. The problems inherent to these malformations are their presentation across specialties that include embryology, anatomy, pathology, thoracic foregut surgery, pediatric surgery and general abdominal surgery. The direct consequence of this variation has resulted in diverse terminology, classification and a failure to identify the correlation. The article aims to summarize and unify the embryological concepts of foregut cystic malformation, to suggest a generic title to the various groups of these interrelated disorders and a uniform use of nomenclature on the basis of unifying concepts of embryopathogeneis.

Concern over the effects of humans of ELF-(extremely low frequency; less than 300 Hz) electromagnetic fields has rapidly increased in recent years. The effects seem to be related to gene level aberrations such as carcinogenesis and developmental malformations, but it is difficult to obtain experimental evidences on field effects. Several safety guidelines or permissible doses have been proposed for electromagnetic wave, but they mainly cover the range of microwave frequencies. Three of the guidelines made in 1989-1990 included ELF-electromagnetic fields and two newly approved guidelines on power-frequency electromagnetic fields appeared in 1990. However, they adopted considerably different values based on different theoretical standpoints. Generally, the concept of electromagnetic fields appears to be confused with that of magnetic field and thus the ideas for protective measures conflict between the two. The author first presented the concepts of electromagnetic and magnetic fields, then briefly discussed their biological effects together with the underlying mechanism, and lastly described these drafts on safety standards or permissible doses. Since subtle and difficult problems remain to be resolved, further investigation will be required in order to put these guidelines into practice.

Arteriovenous communications of the retina are rare developmental malformations considered to have a relatively stationary appearance. We observed a young girl with an arteriovenous malformation over a period of 17 years. Episodes of spontaneous regression, marked dilatation, and elongation of previously normal vessels are described.

Fourteen cases of traumatic basal subarachnoid hemorrhages, examined in the years 1980-1988, were presented. Bleeding was connected with the fracture of the transverse process of the atlas in eleven cases and with atlanto-occipital dislocation in three. The source of hemorrhage--vertebral artery rupture--was determined only four times. In nine cases (63%) atlases showed various developmental malformations (posterior ponticle and foramen arcuale, epitransverse process, incomplete ossification of the transverse process). The results were related to the literature of the subject. Special attention was paid to the mechanism of the rupture of the vertebral arteries in which developmental disorders and pathological conditions may play an important role.