Johnson J P, Carey J C, Gooch W M, Petersen J, Beattie J F
J Pediatr. 1983 Jun;102(6):866-72. doi: 10.1016/s0022-3476(83)80013-4.
Three children with the femoral hypoplasia-unusual facies syndrome are described. Two had the characteristic facial pattern of upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, and hypoplastic alae nasi. The other, an infant girl who died within 24 hours after birth, had a cleft lip, which distorted some of the other features. She also had a cleft palate, as did one of the two older boys. All three children had ear defects, upper limb involvement, and rib, vertebral, lower extremity, and genitourinary tract abnormalities. The infant girl died of lung hypoplasia associated with dysplastic kidneys and widely patent ductus arteriosus. All three were infants of diabetic mothers, one mother having developed overt diabetes in the first trimester of pregnancy. A literature review of 36 reported cases of FH/UFS revealed 12 individuals who were IDMs, establishing a strong relationship of the syndrome with maternal diabetes. A multifactorial inheritance model fits with the reported patients, with the relationship to diabetes, and with the similarity of FH/UFS to caudal regression, another condition related to maternal diabetes.
本文描述了三名患有股骨发育不全-特殊面容综合征的儿童。其中两名儿童具有典型的面部特征，包括睑裂向上倾斜、人中长且上唇薄、小颌畸形以及鼻骨发育不全。另一名女婴在出生后24小时内死亡，她患有唇裂，这使其他一些特征发生了扭曲。她还患有腭裂，另外两名年龄较大的男孩中有一人也患有腭裂。所有三名儿童均有耳部缺陷、上肢受累以及肋骨、脊椎、下肢和泌尿生殖道异常。该女婴死于肺发育不全，伴有发育不良的肾脏和动脉导管未闭。所有三名儿童均为糖尿病母亲的婴儿，其中一名母亲在妊娠早期就出现了显性糖尿病。对36例已报道的股骨发育不全/特殊面容综合征病例的文献综述显示，有12例为糖尿病母亲的婴儿，这表明该综合征与母亲糖尿病之间存在密切关系。多因素遗传模型与已报道的患者情况、与糖尿病的关系以及股骨发育不全/特殊面容综合征与尾椎退化（另一种与母亲糖尿病相关的疾病）的相似性相符。
