Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases.

den Hollander, N S; van der Harten, H J; Laudy, J A; van de Weg, P; Wladimiroff, J W · Ultrasound Obstet Gynecol · 1998

case_report · Level V

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Abstract

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.

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