1/3. Femoral hypoplasia unusual facies syndrome with preaxial polydactyly.Preaxial polydactyly of the foot is an unusual feature in femoral hypoplasia unusual facies syndrome, having been recorded with certainty in only two previous reports. We now add a further two instances of this rare association and emphasize that this finding should not preclude the underlying syndromic diagnosis.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/3. Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum.Several malformation syndromes which include polysyndactyly and craniofacial anomalies have been described. We report a case of an 11-month-old boy with a pattern of anomalies including polysyndactyly, trigonocephaly, partial agenesis of corpus callosum and dysmorphic facies.- - - - - - - - - - ranking = 0.2keywords = facies (Clic here for more details about this article) |
3/3. Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.- - - - - - - - - - ranking = 1.4keywords = facies (Clic here for more details about this article) |