Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.
We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer-Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.
Lin
A E
AE
Department of Medical Genetics, Western Pennsylvania Hospital, Pittsburgh.
Doshi
N
N
Flom
L
L
Tenenholz
B
B
Filkins
K L
KL
D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009958:Orofaciodigital Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology