Sabry M A, Obenbergerova D, Al-Sawan R, Saleh Q A, Farah S, Al-Awadi S A, Farag T I
Medical Genetics Centre, Maternity Hospital, Kuwait.
J Med Genet. 1996 Feb;33(2):165-7. doi: 10.1136/jmg.33.2.165.
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.
本文描述了一名患有股骨发育不全-特殊面容综合征临床特征的贝都因男婴。其表型包括双侧不对称下肢发育不全/发育不全伴双侧股骨短残端、右侧胫骨缺如、右侧大脚趾分叉、面容畸形、胸/骨盆异常、巨阴茎和双侧隐睾。本报告再次强调了先前描述的股骨发育不全-特殊面容综合征与轴前多指畸形的罕见关联，并表明该综合征的临床谱可能会进一步扩展以纳入其他异常特征，例如巨阴茎和胫骨缺如。
