1951/9538. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases. Two cases with severe congenital megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) are presented. This is a rarely encountered syndrome in neonates and 45 cases have earlier been reported. The disease is usually lethal and it now seems clear that MMIHS is an autosomal recessive disorder. The enlarged bladder, typical of this syndrome, is however easy to define by ultrasound, sometimes even in early pregnancy. The concomitant finding of a dilatation of the urinary tract and the absence of oligohydramnios may lead the physician to suspect the diagnosis. Because of the information available from sonography, appropriate investigations can be undertaken immediately after delivery. Prenatal ultrasound examination in subsequent pregnancies is recommended. ( info) |
1952/9538. Fraser's syndrome. A full term female baby at birth showed the features of Fraser's syndrome viz. upper lid coloboma, cryptophthalmos, abnormal groove over temporal region, dysmorphic facies, hypospadias and bilateral syndactyly. On ultrasound examination of the abdomen and left orbit, maldeveloped kidney and eyeball were found. Other siblings were not affected. The child died at the age of 3 months. ( info) |
1953/9538. Neonatal alloimmune thrombocytopenia due to anti-HPA-5b (Br(a), Zav(a), Hca): the importance of third-generation platelet antibody detection techniques, a case report. Investigation of the maternal serum in a case of suspected alloimmune neonatal thrombocytopenia by conventional, second-generation platelet serological assays (platelet radioactive antiglobulin test [PRAT], platelet suspension immunofluorescence test [PSIFT] and solid-phase adherence assay (SPAA, 'Capture-P') demonstrated only the presence of HLA class-I antibodies of limited specificities: no platelet-specific antibodies were detectable. The use of a third generation, glycoprotein capture assay (monoclonal antibody-specific immobilization of platelet antigens, MAIPA) revealed the additional presence of anti-HPA-5b with a titre of 1 in 32. Despite this relatively high titre, and the fact that it was able to induce a prolonged thrombocytopenia, this antibody was not detectable by conventional assays. In view of these findings we conclude that the use of MAIPA is essential when investigating cases of suspected alloimmune neonatal thrombocytopenia. ( info) |
| Reduction cystoplasty is a useful procedure to treat a large, poorly functioning bladder in boys with prune belly syndrome who are candidates for urinary tract reconstruction. The technique includes elliptical resection of all anomalous urachal tissue and sufficient detrusor dome to reduce bladder capacity to average size and to create a spherical detrusor. Improved detrusor function and a satisfactory of excellent result can be expected. ( info) |
1955/9538. Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978). ( info) |
1956/9538. Acrorenal syndrome: further observations. A 23-year-old female patient with the acrorenal syndrome is described. In addition to acral and renal malformations, she had anomalies of the gastrointestinal and genital tracts. An annular pancreas had caused duodenal obstruction and had been associated with malrotation of the bowel. Secondary sexual characteristics were absent; no ovaries were identified by pelvic ultrasound, and endocrine investigations were compatible with non-functioning ovaries. ( info) |
1957/9538. encephalocele, radial defects, cardiac, gastrointestinal, anal, and renal anomalies: a new multiple congenital anomaly (MCA) syndrome? We present two unrelated female patients with a complex pattern of congenital malformations including encephalocele, oesophageal atresia, abnormal lung lobation, congenital heart defects, anal anomalies, liver, spleen and radial defects. Clinical variability between the two cases can be seen as a result of variable expression. The pattern of anomalies in these two unrelated patients suggest that they may represent the same, as yet unknown, syndrome. ( info) |
1958/9538. Microgastria-hypoplastic upper limb association: a severe expression including microphthalmia, single nostril and arhinencephaly. Report on a female infant with iris coloboma on the right and microphthalmia/orbital cyst on the left, single nostril, radial defectis, abnormal lung lobation, congenital heart defect, hypoplastic spleen, absent gallbladder, microgastria, unilateral renal aplasia, arhinencephaly and fused thalami. This case represents an unusually severe expression of a probably rare association recently reviewed by Lueder et al. (1989). ( info) |
1959/9538. fetus with unbalanced translocation involving chromosomes 2 and 11. We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I waardenburg syndrome gene is discussed. ( info) |
| We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association. ( info) |