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Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand.The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991-2011 were retrospectively reviewed.Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3-5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females.Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.

Copy number variants (CNVs) involving the 10q22 chromosomal region are rarely reported. At present, only eight patients with deletions at this locus have been reported. The reciprocal duplications are rarer and have never been described. Here, we report two unrelated patients with de novo overlapping duplications at 10q22 detected by high-resolution chromosomal microarray analysis (CMA). CMA revealed two duplications: arr 10q22.1q22.3(72331092-78710233) × 3 dn and arr 10q22.1q22.3(70742930-80565963) × 3 dn. Speech impairments, behavior problems, genital anomalies, dysmorphic features, developmental delay and intellectual disability were observed in both patients. The shared genomic region and the similar clinical features suggest a novel contiguous gene duplication syndrome at 10q22. Based on all pathogenic CNVs delineated and candidate genes identified in this interval, the critical region for the novel genomic duplication syndrome is located on 10q22.2.

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

The examination of the newborn is one of the most common yet crucial tasks performed by the pediatrician. The initial hospital visit (immediately after the birth), with the confirmation that an infant is healthy, often sets the tone for the future relationship between the physician and the family. Many routine visits during the first few years also find the parents looking for the same reassurance from their doctor. However, when there is concern for the health of the newborn, toddler, or young child, the physician must balance appropriate medical intervention with words of comfort and consolation. This article delineates the need for when more immediate attention is warranted from those situations where watchful waiting can be advised, with specific attention to the male genitalia of the prepubertal boy. [ Pediatr Ann . 2016;45(9):e311–e313.]

An undescended testis (UDT) is one of the most common genital anomalies in boys. Complications of a UDT include testicular cancer, infertility, and testicular torsion. Prompt treatment can minimize the risk of these complications. Although there are standardized guidelines for boys with palpable undescended testes, there are no formal guidelines for managing boys with nonpalpable testes. In this mini-review, we look at current trends in diagnosing and treating this disorder as well as surgical procedures. Laparoscopy is both a diagnostic and therapeutic procedure, which is safe when performed by a skilled operator.

Introduction. Urogenital congenital anomalies are among the most common congenital anomalies and very frequent pathology in paediatric urology. Health care systems strive to shorten the duration and reduce the costs of hospitalization, while maintaining treatment effectiveness. Objective. To evaluate the duration of hospital stay of surgically treated patients with congenital urogenital anomalies and estimate the possibility of using fast track surgery principles in paediatric urology in the local settings of a developing country. Methods. Retrospective non-randomized study included 552 patients who had been surgically treated at the Urology Department of the University Children?s Hospital, during 2010. In line with their congenital anomalies, all patients were classified in one of four groups: I - upper urinary tract anomalies (252 patients); II - genital anomalies (164 patients); III - testicular anomalies (76 patients) and IV - associated anomalies (60 patients). We analyzed the total duration of stay as well as preand post-operative stay in the hospital. Results. The average duration of hospitalization was 4.7?4.0 days. Patients with testicular anomalies stayed for the shortest period (2.3?1.9 days) (p

Hypospadias is one of the most common congenital genital anomalies for which surgery early in life is indicated. The surgical treatment is changing progressively, often by repeating treatment strategies that have been used decades ago. Indeed, historically two-stage procedures were replaced by one-stage procedures and nowadays two-stage procedures gain new interest. The same for reconstructions using the urethral plate, which decades ago were based on the Thiersch Duplay principle. In the 1980s, preputial onlay flaps were most often used and today we see a new interest in the use of the urethral plate. The actual surgical approach to hypospadias is described and technical details are given.

The present stud- was conducted to evaluate the usefulness of dih-drotestosterone (DHT) binding assa- of skin fibroblasts for the differential diagnosis in infants of testicular feminization s-ndrome (TFS) from other disorders with genital anomalies. DHT binding was measured in the fibroblasts derived from the patients with intersex or genital anomalies such as TFS, incomplete TFS, pure gonadal agenesis, retentio testis, Klinefelter's s-ndrome, testicular d-sgenesis, adrenogenital s-ndrome, and Turner's s-ndrome. All patients except the TFS patients exhibited normal binding capacit- in fibroblasts from either genital or nongenital skins. The patients with TFS were 3 and 6 -ear-old siblings whose diagnosis had not been made completel- b- g-necological examination and routine laborator- tests, but the binding assa- contributed to making the exact diagnosis of these patients. DHT binding of skin fibroblasts from normal males and females was 11.5±8.6 (S. D.) fmoles/mg cell protein in nongenital skin, whereas the DHT binding assa- of these patients showed that the maximal number of binding sites was under 0.5 fmoles/mg cell protein. These results suggest that DHT binding assa- of skin fibroblasts is useful also for the prospective differential diagnosis of TFS in infant and prepubertal patients and that treatment for TFS might be planned from infanc-.

Objectives Many concerns have been raised regarding the treatment and long-term outcome of infants born with complex genital anomalies. Debate among clinicians, psychologists, ethicists, and patient advocate groups regarding the optimal management of these individuals is ongoing. Although determining the most appropriate gender is a difficult task, this review will help clarify some of the issues at hand. Methods A literature review which addresses the challenges of advising families about gender identity in infants and children with disorders of sex development. Results The evidence for endocrine effects on neurobiological development with regard to sexual behavior is compelling, although the existing outcome studies are largely anecdotal and somewhat contradictory. Conclusions Gender assignment in infants born with a disorder of sex development remains only one of the many difficult decisions faced by both the treatment team and the family. Improved long-term follow-up of these patients will provide much needed feedback on previous and contemporary management.

The recurrent microdeletion 15q24 syndrome is rare with only 5 cases reported thus far. Here we describe an additional patient with this deletion, presenting with many features common to this syndrome, including developmental delay, loose connective tissue, digital and genital anomalies and a distinct facial gestalt. Interestingly, in addition, this patient has a large congenital diaphragmatic hernia, as was described in one other patient with a 15q24 microdeletion, indicating that this feature might be part of the syndrome. Chromosome 15q24 has a highly polymorphic architecture that is prone to genomic rearrangements underlying this novel microdeletion syndrome.

Both Aarskog syndrome and atraumatic anterior hip dislocation are rare entities. Aarskog syndrome is an X-linked recessive disorder with facial, digital, and genital anomalies and is associated with varying degrees of ligamentous laxity. This is believed to be the only known reported case of bilateral anterior voluntary dislocating hips in an ambulatory child and the only reported case of hip dislocation in a child with Aarskog syndrome. Staged bilateral varus derotational femoral osteotomies and Dega osteotomies were successfully performed. Hardware was removed 1 year after the second operation. The patient has been asymptomatic at 2 years' follow-up. This article calls attention to the features of Aarskog syndrome and potential orthopaedic concerns.

Smith-Lemli-Opitz syndrome is a rare autosomal recessive genetic disorder which diagnosis is usually made postnatally. We describe a case of a prenatal diagnosis based only on specific ultrasound findings: intra-uterine growth retardation with facial dysmorphia, polydactyly and genital anomalies. We suggest giving more consideration to the ultrasound scanning for the diagnosis of the syndrome in the prenatal period.

A sibship is reported of three brothers who all manifested short stature and identical facial, digital, and genital anomalies consistent with Aarskog's syndrome. In addition, all manifested ophthalmoplegia and growth delay of prenatal onset, features uncommon among patients previously reported with this syndrome. The mother had some of the digital anomalies seen in her three boys, but otherwise was unaffected. The pattern of inheritance seen in our family and in those previously reported indicates that the syndrome is either X-linked recessive or autosomal dominant, with limited expression in the female.

Background: Hypospadias is one of the most common congenital genital anomalies in males that necessitates to be operated early in infancy (when 6 to 9 months old). On the other hand, hypospadias is a challenging field of pediatric urology with multiple reconstruction techniques. A perfect hypospadias repair is supposed to return urethral continuity with sufficient caliber, eradicate phallus curvature, and supply an acceptable appearance with low complications. Objectives: This study aimed to evaluate the outcomes of using onlay island flap technique in the repair of hypospadias with shallow urethral plate. Patients and Methods: In this prospective study within June 2012 to December 2013, we performed onlay island flap procedure to repair hypospadias with shallow urethral plate measuring less than 6 millimeter. This technique was selected for all types of hypospadiasis except subcoronal type. Nesbit’s dorsal plication procedure was established for chordee. In cases with very small glans, urethroplasty was performed without glansplasty. Results: Twenty three patients with mean age of 30 (range 10 - 60) months underwent onlay island flap repair; all had a shallow urethral plate < 6 mm, 3 had a very small glans, and 18 had chordee. Meatus was located in distal shaft in 5 cases, mid shaft in 8, proximal in 6 and penoscrotal type in 4 patients. Chordee was corrected with Nesbit’s dorsal plication in 16 cases. Complications were: meatal stenosis in 2 cases and urethrocutaneous fistula in 2 patients, all of which were repaired surgically. Mean follow up time was 13 (3 - 20) months. All cases that had glansplasty have excellent esthetic appearance. Conclusions: This technique offers acceptable results regarding meatal stenosis, urethrocutaneous fistula and esthetic outcome.

Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs. Professional counselling explained him the nature of his condition and treatment options to correct dental anomalies and congenital malformations were advised.

Background: There is scarce information on how parents cope with children with genital anomalies. Participants & methods: Twenty-six parents of 25 children with a median age of 0.5 years (r, 5 days‐ 10.8 years) were recruited through the Scottish Genital Anomaly Network and had a quantitative assessment of parenting stress and coping patterns; a qualitative assessment by a semi-structured interview was also performed in19 parents. Results: In five parents, the total stress score was above the 85th centile, denoting clinical levels of stress. Three parents showed reduced coping pattern scores for social support, self-esteem and psychological stability and three showed a reduction in utilization of communication with medical professionals. The scores did not correlate with each other or the extent of genital anomaly in the child. Semi-structured interview analysis revealed parents’ need for more knowledge about the imminent surgery, post-operative care and their desire for written information that could complement the time-restricted contact with the clinical team. Conclusion: In the majority of cases, parents did not display abnormal levels of stress or coping on quantitative assessment. The semi-structured interview provided further information about the parents’ level of coping and potential for stress and highlighted the need for more effective exchange of clinical information at a critical period of the parent‐child relationship.

In the last decade, significant progress in the knowledge and management of external genital anomalies has been achieved, including an improved understanding of epidemiology and pathophysiology of these anomalies, the identification of etiologic genetic defects, and significant improvements in surgical approaches that have decreased complications and improved cosmetic outcomes. We highlight the most clinically important advances of the commonly encountered external genital anomalies.

Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 ( ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. The prevalence of Mowat-Wilson syndrome is currently unknown, but it seems that Mowat-Wilson syndrome is underdiagnosed, particularly in patients without Hirschsprung disease. We report here the first Egyptian case of Mowat-Wilson syndrome who was conceived by intracytoplasmic sperm injection. The patient manifested bilateral sensorineural hearing loss—a new feature not previously reported in cases of Mowat-Wilson syndrome. This report describes the first Egyptian patient of Mowat-Wilson syndrome who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome.

Penile and urethral anomalies are common congenital disorders with some rare variations. For example, the floppy penis is dealt with in only a few publications with a small numbers of cases. Other anomalies have not been published at all, i.e., the ectopic penis. Some anomalies become apparent immediately at birth, others remain undiscovered until adolescence. To date there is no established classification system dealing with urethral and penile anomalies. Also, no established guidelines exist for diagnosing and treating these anomalies. Surgical corrections of penile and urethral anomalies should follow standardized procedures on the one hand, but must respect the individual anatomical situation on the other. Since genital anomalies are frequently part of a syndrome, interdisciplinary approaches are advisable. The following article presents a classification of penile and urethral anomalies. Since posterior urethral valves usually affect the bladder and upper urinary tract, this disorder is not included in this review.

Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation. The presence of affected siblings in two of the original families suggests autosomal recessive inheritance. We report a new patient that exhibits all of these cardinal features and is also the second case to have additional, more severe findings including a congenital heart defect, anal anomalies, and features of an ectodermal dysplasia, thus expanding the phenotype to include these manifestations.

CHARGE syndrome comprises ocular coloboma (C), heart malformation (H), choanal atresia (A), retardation of growth and/or anomalies of the central nervous system (R), genital anomalies (G) and ear anomalies (E). Prenatal diagnosis of CHARGE syndrome may be suspected in the presence of specific major anomalies at ultrasound examination. We describe prenatal diagnosis of CHARGE syndrome confirmed by identification of a mutation in CHD7 gene in a previously unaffected family. © 2012 John Wiley & Sons, Ltd.

patients: urogenital (43.1%), cardiovascular (41.4%), sacrospinal (13.8%), limb (10.3%), and tracheoesophageal fistula (TEF; 6.9%) anomaly. Urogenital anomalies were more common than other anomalies among patients with high ARM (25 patients). ARM-associated urologic anomalies were found in 16 of 25 (64%) patients, and hydronephrosis was the most common (62%) urologic anomaly. Genital anomalies were detected in 9 of the 25 (36%) patients, and undescended testes (37.5%) and hypospadias (37.5%) were the most common genital anomalies. Detailed evaluation of associated anomalies, “VACTERl workup,” in the neonatal period is essential for newborns with ARM.

Objective To describe a new technique to preserve the penile epithelium with good cosmetic results when additional surgery is a significant possibility. Complex genital reconstruction can require multiple procedures. Methods Seven patients underwent grafting of the penile epithelium to the scrotum during genital reconstruction to bank the tissue for potential future use. The graft size was 8-40 mm in the maximal length. Results The median age at surgery was 8.1 months. The median interval to the last follow-up examination after surgery was 13.5 months. All 7 patients demonstrated excellent wound healing with good cosmetic results. Conclusion In patients with complex genital anomalies, nonhair-bearing epithelium is a valuable asset. At times, the paucity of available local tissue necessitates autografting with nongenital epithelium. The need for nongenital tissue can be reduced if excess penile skin is banked for potential use at a later date. We describe a technique in which the penile skin is preserved for potential future reconstruction using free grafting to the scrotum.

Polyorchidism is a rare congenital anomaly. A review of literature has yielded about 100 cases. We describe a rarer case of polyorchidism consisting of 3 testes on left hemiscrotum and one normal testis in right hemiscrotum. Diagnosis and management are discussed.

An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.

PubMed ID: 10771823, Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with optic atrophy in Multiple Pterygium Syndrome (Escobar).

Chapter 92 covers IMAGE (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome (MIM 300290), including major clinical findings, radiographic features, and differential diagnoses.

Phthalates are part of a class of high-volume industrial chemicals used ubiquitously in health care as well as household products. Biomarker studies have confirmed the widespread presence of these chemicals in both humans and animals. As a class, phthalates have been implicated in diseases and birth anomalies of the genitourinary tract including hypospadias, testis anomalies, and subfertility. This article will discuss the current data surrounding these chemicals and their association with genital anomalies including genital anomalies and infertility.

Acro-cardio-facial syndrome (ACFS) is an infrequently reported, variable condition characterized by split-hand and split-foot malformation and congenital heart defect (CHD), along with cleft lip and palate, genital anomalies, unusual face and intellectual disability. An autosomal recessive pattern of inheritance has been suggested because of affected sibs born to unaffected parents and parental consanguinity; the cause is unknown. We describe a newborn with the clinical manifestations of ACFS in whom a deletion of the region 6q21-q22.3 was detected by array CGH. We compare the clinical features of the present patient with earlier reported patients with similar 6q deletions and patients diagnosed with ACFS. The similarities between these patient groups suggest that ACFS may be a microdeletion syndrome caused by loss of the 6q21-22.3 region. The recurrence in families may be explained by prenatal germline mosaicism. Alternatively, ACFS may be a genetically heterogeneous disorder which can also be caused by biallelic mutations of an autosomal recessive gene.

An accurate diagnosis of fetal genitourinary abnormality is essential because some genitourinary abnormalities are associated with pulmonary hypoplasia, which ultimately affects the neonatal outcome. Adrenal masses are rare; however, presence of any lesion located at the superior pole of the kidney should raise the possibility of an adrenal mass. Fetal genital anomalies are rare as well and some of the most difficult to diagnose. A combination and pattern of findings allows for specific diagnosis of renal tract abnormalities. This article reviews the imaging appearance of fetal genitourinary abnormalities with perinatal imaging correlation where available.

Tibial aplasia is an uncommon lower limb malformation that can occur isolated or be part of a more complex malformation pattern. We describe a 9-year-old boy born after uneventful pregnancy and delivery. Family history was negative for maternal diabetes and other malformations. The patient presented with left tibial aplasia and homolateral prexial foot polydactyly. He also displayed enamel dysplasia and bifid scotum with cryptorchidism. Literature review failed to identify a significant syndromic association between lower limb defects of the tibial type and the genital anomalies reported here. The combination of tibial aplasia with midline genital malformations further supports the hypothesis that the tibial ray development mirrors the morphogenetic process of the radial structures. Accordingly, the malformation pattern observed in the present patient may be pathogenetically explained by an insult occurring during late blastogenesis.

Multiple pterygium syndrome is a rare, inherited disorder manifested by growth retardation, facial or genital anomalies, and widespread musculoskeletal deformities. Pterygia are the predominant hallmark of the syndrome. Five children with multiple pterygium syndrome were treated from 1978 to 1987. Treatment involved both upper and lower pterygia and contractures. The results of treatment and modalities used are discussed and a protocol suggested.

UTI is common childhood infection yet frequently missed. The anomalies of genito-urinary tract are important predisposing factor for UTI. Certain anomalies of external genitalias points towards these internal urogenital anomalies. Present case an infant of 11 months with predominant presentation of bronchiolitis also had micropenis, which lead to focused renal screening and detection of multiple urological anomalies. Infant responded well to the treatment and is doing well on follow up. Learning Points: Careful genital examination for external genital anomalies can help to unmask serious yet asymptomatic underlying urological malformation, if present should be followed by urine R/M +/-C/S. Keywords: UTI, Micropenis, Urological anomaly

Background/Aims: Klinefelter’s syndrome is characterized by progressive testicular failure causing aspermatogenesis and androgen deficiency. Klinefelter patients classically have complete male sex differentiation, and genital anomalies are generally not recognized as associated features of the syndrome. Methods: We reviewed the cases of Klinefelter’s syndrome with genitalia abnormalities from the Cambridge Disorders of Sex Development Database, and also reviewed previous case reports of genital anomalies associated with Klinefelter’s syndrome and its variants. Results: We present seven Klinefelter patients with abnormalities of the genitalia, ranging from mild anomalies (chordee) to moderate undervirilisation (bifid scrotum and perineal hypospadias). Two cases were true hermaphrodites with karyotypes 47,XXY and 47,XXY/46,XX respectively. Though androgen insensitivity has been postulated previously as a possible pathogenic mechanism, we demonstrated normal androgen binding in 3 cases in which this was studied. Review of other case reports revealed a range of mild-to-severe abnormalities as well as cases reported as sex reversal, testicular feminization, and true hermaphroditism. Conclusion: Genital anomalies are not commonly observed in Klinefelter’s syndrome. However, it is important to acknowledge the association, and recognize Klinefelter’s syndrome as one of the causes of abnormal genitalia at birth.

Pfeiffer-type cardiocranial syndrome (MIM 218450) was first delineated in 1987; several further patients have been reported confirming this as a distinct nosological entity. The aetiology of this condition remains unknown although an autosomal recessive pattern of inheritance has been suggested following the description of sib pairs. A patient is described with features of this condition including sagittal suture synostosis, growth retardation, learning difficulties, hypertelorism, low-set ears, micrognathia, congenital heart defects and genital anomalies. Telomere studies on blood and skin samples identified a de novo unbalanced rearrangement resulting in partial monosomy for 1p36.1 to pter and partial trisomy for 17q25.1 to qter. This case provides the first insight into the possible aetiology of this condition.

A 7 year old boy with minor facial anomalies, the Rieger eye malformation, reduced vision, genital anomalies, and severe mental retardation had deletion of the segment 4q24-- >q26. His phenotypically normal father had a balanced insertion of that segment into the distal long arm of chromosome 6: 46, XY, ins (6 ; 4) (q26 ; q24q26). Microsatellite loci flanking the RIEG gene on 4q25 were deleted giving indirect evidence of deletion of this locus. This finding and the normal ocular findings in the insertion carrier father show that haplotype insufficiency can cause the Rieger eye malformation.

Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris.

We report on a baby presenting with ectrodactyly, heart defects, and mild facial dysmorphisms, an association recognized as acro-cardio-facial syndrome (ACFS). Based on the first three observations, the acronym CCGE, cleft palate, cardiac defect, genital anomalies, and ectrodactyly had been proposed to embrace the most consistent features of this syndrome. A subsequent report and the present patient point to an obvious interindividual and intrafamilial variability of this autosomal recessive disorder in which ectrodactyly was the sole characteristic shared by all affected individuals.

This book focuses on the current basic science research of hypospadias and genital development. Congenital anomalies of the genitalia are the second most common birth abnormality besides congenital heart defects. Genital anomalies come in many varieties with the most common abnormality being hypospadias. The etiology of hypospadias remains unknown and the incidence is doubling in western countries with no definable explanation. It therefore seems especially germane to study this common congenital anomaly with a baseline incidence of 1/125-250 newborn males.

Partial trisomy of the long arm of chromosome 10 is a well-defined but rare syndrome. Clinical features of this chromosomopathy are a distinctive dysmorphic appearance, developmental delay, growth retardation, and in some cases, abnormalities of the extremities and renal, cardiac and ocular anomalies. This report describes a neonate with symmetric growth retardation and multiple dysmorphic features, in whom chromosomal analysis revealed a partial trisomy of chromosome 10q with a monosomy of the 13q34 region. The phenotype shares many common features with previously published cases. In addition to the typical features, our case also shows renal hypoplasia with early renal insufficiency and some genital anomalies.