Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases.
The early second-trimester sonographic diagnosis of two infants with short rib (polydactyly) dysplasia type IV (Beemer-Langer dysplasia) is presented. In addition to short ribs, this syndrome is characterized by short limbs with or without polydactyly. There are often associated defects, particularly neural-tube anomalies. The occurrence of consanguinity and of four affected siblings in this family support autosomal recessive inheritance.
den Hollander
N S
NS
Department of Obstetrics and Gynecology, University Hospital Rotterdam-Dijkzigt, The Netherlands.
van der Harten
H J
HJ
Laudy
J A
JA
van de Weg
P
P
Wladimiroff
J W
JW
D000328:Adult; D001699:Biometry; D003241:Consanguinity; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal