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The results of an epidemiological survey of facial clefting in the province of Manitoba which covered the years 1964 to 1977, inclusive, are reported. The mean annual incidence of total facial clefts was 2 in 1000 births; the incidence of cleft lip +/- cleft palate (CLP), and of cleft palate (CP), unassociated with a syndrome or two or more major malformations, was 1.05 in 1000 and 0.46 in 1000, respectively. Mennonite infants were over-represented in the CLP group and Amerindian infants in both the CLP and CP groups. These ethnic groups also had more familial cases and showed higher average coefficients of inbreeding. Recurrence rates among sibs were found to be influenced by the presence or absence of additional affected relatives and by the presence of malformations in the proband. It is possible that these latter two variables may not be independent.

A patient with Rubinstein-Taybi syndrome complicated by tetraplegia secondary to cervical spondylolisthesis is reported. The abnormalities presenting in this condition are reviewed.

Pathogenetic examinations of 96 mentally retarded children with multiple somatic anomalies and developmental defects (but without Down's disease) were carried out. Changes of the caryotype were discovered in 36 children (37.5%). In 21 children (22.0%) there were true autosomal aberrations 1/4 of which were tri- and monosomies, mainly in the form of mosaicism, and 3/4 were non-balanced structural reconstructions of the autosomes. In about 1/3 of the cases the structural anomalies were inherited by the children from their phenotypically healthy parents who had balanced translocations or inversions. In 15 children (15.6%) chromosomal variations were discovered. No differences between the clinical manifestations of the mental retardation in children with true autosomal aberrations and chromosomal variations were noted.

A case of crossed ectopia with a solitary kidney in a 73-year-old man is presented. The fact that the kidney is normally situated and vascularized, and the presence of a second blind homolateral ureter leads us to conclude that this is a case of crossed ureteral ectopia in a solitary kidney. The embryogenesis of the malformation is discussed.

Two babies with sirenomelia are described. Case 1, one of twins, showed the full sirenomelia sequence in conjunction with atelencephaly and cebocephaly. Case 2 had malformations consistent with a diagnosis of the VATER association. Review of the literature indicates that the basic defect in sirenomelia and the VATER association lies in the formation and differentiation of mesodermal tissue and that sirenomelia, the VATER association, and monozygotic twinning show a complex etiological interrelationship.

Five children presented with recurrent respiratory illnesses and were noted to have pectus excavatum. In four patients subsequent investigation demonstrated a collapsible segment in the middle third of the left main bronchus, which appeared to lack cartilage support and caused gas trapping in the left lung. The remainder of the bronchial tree was normal. In the remaining child the clinical and physiologic pattern was very similar. In three children there were no other anomalities, but two had congenital heart disease. The association of bronchial anomalies and pectus excavatum may occur more often than suspected.

The abdominal muscle deficiency syndrome ("prune belly syndrome"(, a symptom triad of aplasia of the abdominal wall musculature, malformations of the urinary tract, and cryptorchism, is described from the urologist's point of view, citing nine cases. With modern diagnostic procedures the early detection of the correct diagnosis in the usually very young patients is possible. While the urologic symptomatology is due to the malformations in the urinary tract, the life expectancy depends mainly on the degree of renal function impairment. Combat of infection together with proper operative repairs are the treatments of choice to date. Instrumental procedures should be limited as much as possible. The survival changes following kidney transplantation appear promising.

The object of this paper is to analyse our experience at the Hospital for Sick Children, Great Ormond Street (London, U.K.) in the management of 10 patients with posterior laryngeal clefts during the past 5 years. Of these 10 patients, 4 had minor clefts not causing significant laryngeal incompetence. The other 6 patients had clefts extending below the cords requiring repair. Other congenital abnormalities were prevalent in this series, particularly oesophageal abnormalities. The frequency of this association is stressed, the problems of diagnosis and management discussed and recommendations made to avoid delay in identification of these abnormalities.

In 1952-1976 autopsy was performed of all 3 734 still-born and 12 809 deceased children in the Central Bohemian region. Congenital heart disease (CHD) was found in 1 067, i. e. 6.45%, of all autopsies. The death rate from CHD in live-born and in still-born infants was 2.1/1000 and 22/1000, respectively. Of all congenital malformations CHD represented 41.4% in the deceased and 21.2% in the still-born infants. The incidence of congenital malformations involving other systems in CHD was 41.4%, the highest incidence being associated with anomalous position of the heart, endocardial cushion defect and ventricular septal defect. The most common associated malformation were congenital anomalies of the gastrointestinal tract. Down's syndrome was identified in 11.5% of all CHD ending in death. Ventricular septal defect, transposition of the great arteries and hypoplastic left-heart syndrome were the most frequent CH diseases. 85.7% of children with CHD leading to death died within the first year of life; 27.3% of CHD infants had a low birth weight.

We examined a 5-month-old boy who had an iris coloboma in the left eye, persistent hyaloid artery, macular hypoplasia, left aberrant nerve palsy, and bilateral blepharoptosis. He had microcephaly and bilateral corticospinal tract dysfunction. Additionally, he had brachycephaly, a high arched palate, hypospadias, a malformed left external ear, and bilateral finger contractures. Computed tomography showed agenesis of the corpus callosum. He died at age 5 months. On histologic examination the left eye showed an iris coloboma, ciliary epithelial differentiation to the retina, undifferentiated neuroepithelium beneath the equatorial retina, persistent hyaloid artery, and optic nerve coloboma and pit. These findings may result from failure of the fetal fissure of the optic cup to close, with redundant folds of neuroepithelium and focal aberrant differentiation. The constellation of developmental defects indicates that an insult occurred during the sixth week of gestation.

The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

A case of malignant hyperthermia in a young girl with vesicoureteral reflux and multiple congenital abnormalities is discussed. Malignant hyperthermia is a relatively newly defined problem that is associated with anesthesia. It is being recognized with increasing frequency, particularly in children with multiple musculoskeletal anomalies. The term itself is a misnomer. It is a drug-induced syndrome of hypermetabolism that may represent an inborn error of metabolism. Recognition, prophylaxis and crisis management are reviewed, and the use of dantrolene sodium in the care of patients with malignant hyperthermia is discussed. Because recognition of malignant hyperthermia is an important concern for the practicing urologist, the principles of identifying the patient at risk, as well as managing the crisis, should be familiar to the clinician.

The records of 40 infants with intrinsic duodenal obstruction have been reviewed. Of these more than half had no bile in the vomit. Persistent vomiting had been considered as the major factor of doubt regarding duodenal obstruction. The incidence of other associated congenital abnormalities was 70%. The over all mortality rate was 42.5%. The association of mongoloidism to the intrinsic duodenal obstruction was found approximately in every third infant. The low birth weight without other congenital abnormality has very little effect on the mortality rate.

The oral manifestations of 80 reported cases of 4p- syndrome are analyzed and a new case is reported. Results indicate that the common pattern of cheilognathopharyngeal disorders in 4p- syndrome is an isolated cleft palate or a high-arched palate with micrognathia. Cases of cleft lip are only about 10% of the total. The significance of other reported aberrant phenomena cannot yet be estimated.

Ebstein's anomaly of the tricuspid valve occurs as an isolated defect with other forms of congenital heart disease such as transposition of the great arteries or tetralogy of Fallot or, rarely, in association with extracardiac malformations. Because so little is known about this latter group, we studied four cases clinically, at autopsy, and by means of a retrospective chart review. Major extracardiac changes most often involved the craniofacial region, central nervous system, and limbs. Karyotypes were normal, and no distinctive syndromes or anatomic patterns were identified. Since the timing of Ebstein's anomaly is quite precise, ascertainment of such cases on the basis of cardiac morphology may enhance the understanding of etiology and pathogenesis. Both causes and mechanisms may well be diverse, for the clinical histories and anatomic findings in present and previously reported cases vary considerably. Isolated Ebstein's anomaly may develop from topographically and temporally localized damage. Ebstein's anomaly with extracardiac defects may involve damage during a longer, and perhaps earlier, period.

Clinical details of twenty-three of twenty-nine cases of hypodontia and nail dysgenesis are presented. The classic features of severe hypodontia and a distinctive congenital nail defect were found in all families. The use of a simple method of sweat testing disclosed a minor deficiency of sweating in one family.

At The Hospital for Sick Children in Toronto, 21 undescended scapulae were corrected by the Woodward procedure in 20 patients over the past 18 years. The average age at operation was six years six months. The average follow-up period after operation was 8 years 9 months. Fifteen patients were girls and five were boys. All the patients had other associated abnormalities. Only one patient had a concomitant clavicular osteotomy. The average increase in glenohumeral abduction was 37 degrees. The average scapular lowering was two centimetres. Excellent or good cosmetic results were obtained in 80 per cent of patients. Ninety-three per cent of patients expressed satisfaction with the operative results. Complications were few. The Woodward procedure is a safe and relatively straightforward surgical means to effect a good cosmetic and functional improvement in a patient with a congenital undescended scapula. We do not recommend clavicular osteotomy as a routine, but it may be added to gain more correction with less risk of neurovascular compression.

In a series of 6,521 consecutive autopsies of infants and children, renal cysts were found in 136 cases (2%). Of these, 71 were females and 65 males; 103 patients had died in their first month of life. The different types of cystic disease represented were as follows: renal cystic dysplasia 65, cortical cysts in syndromes of multiple malformations 42, polycystic disease 16, simple cortical cysts 7, renal cysts in hereditary syndromes 3, and renal medullary cystic disorders 3. Extrarenal malformations were encountered in 102 of the 136 cases with renal cysts. Gastrointestinal malformations and in particular esophageal atresia very often appeared to be associated with renal disease. Esophageal atresia was found in 29 (21%) cases, 20 in cases with renal cystic dysplasia and 9 in cases with cortical cysts in syndromes of multiple malformations. The possibility of renal cystic disease should therefore be kept in mind in infants with congenital malformation(s), especially those with esophageal atresia.

A case of campomelic syndrome, the first one in Austria, is described. This syndrome, known since 1971, is characterised by congenital shortening and bowing of long bones, with pretibial skin dimples, other abnormalities of bones, and spine prenatal dwarfism, kraniofacial dysmorphia and malformations of heart, kidney and brain. Death in the neonatal periode or in early infancy is the rule. An autosomal recessive mode of inheritance is discussed.

From 1973 through 1983, 20 newborns with congenital duodenal atresia were treated. These patients are compared with our previous series and with other published series. There were no fatalities among the 19 patients who underwent operation, an improvement from the 72 percent survival rate in our previous series. Fifty-five percent of the patients had associated congenital anomalies, which frequently complicated their management. The use of a transanastomotic jejunal feeding tube resulted in delayed oral feeding and prolonged hospitalization, and cannot be recommended.

Obstructive sleep apnea is an insidious and potentially life-threatening disorder that is probably more prevalent than has been previously diagnosed. Since there is generally some mechanism for relief of the respiratory obstruction, this is a very successfully treatable disorder. A strong index of suspicion should be held in cases of oronasal or pharyngeal abnormalities with a potential for respiratory obstruction. Loud snoring (particularly a recent change) and daytime hypersomnolence should alert us. In-hospital sleep monitoring and arterial gas measurements can provide a definitive diagnosis.

This case report describes a hypothalamic hamartoma with multiple congenital abnormalities in a male infant, with a post-mortem examination and histology of the lesion.

We have reported a case of transplacentally transmitted herpes simplex virus (HSV) infection in association with both congenital malformations and other serious abnormalities, including facial abnormalities, microcephaly, cerebral atrophy, and microscopic cranial calcifications. Before death, the infant showed marked neurologic deficits, seizures, and respiratory distress. Serum IgM and complement fixing antibodies to HSV were elevated at birth. Light and electron microscopy and immunofluorescence studies confirmed the presence of the virus.

Under observation there were 27 families with two mentally deranged sibs in each born by intellectually normal parents. In 2 of 24 families, the clinical picture of the derangement in the sibs was different, and in the rest of 22 identical. In 3 families, a sex-linked recessive oligophrenia with a nonspecific clinical picture was diagnosed. Prevalent were clinically non-differentiated forms of the oligophrenia. In 2 families, the oligophrenia was combined with clinical signs of hereditary defects of metabolism. Parents' consanguinity was registered in 4 families.