Femoral hypoplasia-unusual facies syndrome: autopsy findings in an unusual case.
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.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001003:Anal Canal / Q000002:abnormalities; D003025:Clubfoot / Q000150:complications; D003106:Colon / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D012007:Rectum / Q000002:abnormalities; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome; D001743:Urinary Bladder / Q000002:abnormalities