New case of Beemer-Langer syndrome.
We present the case of a male infant born at 37 weeks gestation with multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. We believe that this represents a further case of the Beemer-Langer syndrome, a relatively recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. This case also showed some less frequently described anomalies, including arachnoid cysts of the brain and short intestines.
Vujanic
G M
GM
Department of Pathology, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, UK.
Hunt
N C
NC
D016080:Arachnoid Cysts / Q000473:pathology; D001824:Body Constitution; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology