DePalma L, Duray P H, Popeo V R
Pediatr Pathol. 1986;5(1):1-8. doi: 10.3109/15513818609068843.
Femoral hypoplasia-unusual facies syndrome comprises malformations of the skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities, bilateral talipes equinovarus, and an unusual facies consisting of low-set ears with soft cartilage of the helix, up-slanting palpebral fissures, shortened nose, blunt alae nasi, elongated philtrum, and a thin upper lip. Inferiorly placed kidneys and a septated urinary bladder have also been reported, along with cardiovascular and gastrointestinal abnormalities such as esophageal reflux. The cause and pathogenesis are believed to be multifactorial and probably not inherited. We report the case of a newborn infant with visceral abnormalities not previously recognized in this complex: polysplenia, superiorly placed adrenals at the muscular diaphragms, a single pelvic kidney located in the uterosacral ligament, and anorectal agenesis with the colon ending in a blind pouch above the uterus.
股骨发育不全-特殊面容综合征包括骨骼系统畸形，表现为双侧股骨缩短或缺失、各种骶骨骨质异常、双侧马蹄内翻足，以及特殊面容，包括低位耳伴耳轮软软骨、睑裂向上倾斜、鼻缩短、鼻翼钝圆、人中延长和上唇薄。也有报道称存在肾脏位置下移和膀胱分隔，以及心血管和胃肠道异常，如食管反流。病因和发病机制被认为是多因素的，可能不具有遗传性。我们报告了一例患有该综合征中以前未被认识到的内脏异常的新生儿病例：多脾、肾上腺位于肌性膈上方、单个盆腔肾位于子宫骶韧带内，以及肛门直肠闭锁且结肠在子宫上方终止于盲袋。
