1/4. Robinow syndrome.Robinow syndrome is a rare congenital abnormality. It is characterized by mesomelic brachymelia, hemivertebrae, dysmorphic facies, genital hypoplasia, micropenis, clinodactyly, camptodactly, hypoplastic nails and moderate short stature. We are documenting the case on the account of its rarity and additional features.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/4. Sirenomelia in an identical twin: a case report.Sirenomelia, or the mermaid syndrome, is the most extreme example of the caudal regression syndrome. It invariably presents with lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, anal imperforation, and renal agenesis or dysgenesis. Because of the resultant oligohydramnios, these infants most often have Potter's facies and pulmonary hypoplasia. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. It has been suggested that the association of the most extreme form of caudal regression, sirenomelia, with monozygotic twinning may represent developmental arrest of the primitive streak, with creation of a second primitive streak that gives rise to the usually normal twin. The embryology of the various presentations of the caudal regression syndrome may be further delineated by studying infants with this dramatic and fatal syndrome.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
3/4. Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.A newly recognised profound limb deficiency malformation syndrome in two Arab sibs of different sexes with consanguineous parents is described. Additional features, which include thoracic dystrophy, unusual facies, and normal intelligence, are consistent in both of them. Autosomal recessive inheritance is suggested.- - - - - - - - - - ranking = 5keywords = facies (Clic here for more details about this article) |
4/4. Orofaciodigital syndrome with mesomelic limb shortening.Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this condition be labelled OFD IV.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |