1/4. Popliteal pterygium syndrome with unusual features.Popliteal pterygium syndrome is a well defined complex that consists of popliteal pterygium, intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, syndactyly, valgus or varus deformities of the feet and oral anomalies such as cleft lip-palate. A baby with the typical anomalies as well as a few unusual features such as mongloid slant, hypertelorism, malformed alae nasi and elbow joint contractures is reported.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/4. tuberous sclerosis complex and hydrosyringomielia: Report of two cases.Two patients with typical tuberous sclerosis complex (TSC) associated with cervical or dorsal-lumbar hydrosyringomielia are described for the first time. Syringomielic cavities are small in extension in both cases, leading to significant clinical symptoms as bilateral pes cavus and scoliosis in one patient only. So far, tuberous sclerosis had not been reported to involve primarily the spinal cord, and other factors directly linked to syringomiely are not present in both these patients.- - - - - - - - - - ranking = 5keywords = complex (Clic here for more details about this article) |
3/4. acrocallosal syndrome.acrocallosal syndrome is an autosomal recessive disorder of brain malformation and complex polydactyly. We report on an additional patient with this disorder. It is suggested that increased birth weight and cerebellar hypoplasia occur in acrocallosal syndrome. The finding of an extra bone within the anterior fontanel in our patient suggests similarity to the Xt mouse mutant, which is homologous to Greig syndrome in man. This provides additional support for the hypothesis of allelism of the Greig and acrocallosal syndromes.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
4/4. trisomy 22 and facioauriculovertebral (Goldenhar) sequence.We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly, and limbal and epibulbar complex choristoma. trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Golenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |