| Literature DB >> 8929957 |
M A Sabry1, D Obenbergerova, R Al-Sawan, Q A Saleh, S Farah, S A Al-Awadi, T I Farag.
Abstract
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.Entities:
Mesh:
Year: 1996 PMID: 8929957 PMCID: PMC1051846 DOI: 10.1136/jmg.33.2.165
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318