Two female siblings from Turkey with langer mesomelic dysplasia (homozygous Leri-Weill dyschondrosteosis syndrome)


Balci S., Zafer Y., Unsal M.

TURKISH JOURNAL OF PEDIATRICS, vol.41, no.4, pp.531-539, 1999 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 4
  • Publication Date: 1999
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.531-539
  • Keywords: Langer mesomelic dysplasia, homozygous Leri-Weill dyschondrosteosis syndrome, hypoplastic ulna-fibula, hypoplastic mandible, prenatal diagnosis
  • Dokuz Eylül University Affiliated: Yes

Abstract

Leri-Weill dyschondrosteosis is an autosomal dominant syndrome of which the characteristic features are mild-to-moderate shortness of stature and Madelung deformity of the wrist. The homozygous state of the gene for Leri-Weill syndrome causes Langer mesomelic dysplasia which is characterized mainly by shortening of the long tubular bones, more markedly in the middle than in the proximal and distal segment of the extremities. In this paper, we present two sisters with Langer mesomelic dysplasia (12 years and 6 months of age, respectively), from consanguineous parents. The mother of our cases had Madelung deformity. Father, mother and grandmother also had a slight deformity of both forearms. Unfortunately, despite the well documented case of the older sister with Langer mesomelic type dysplasia, the first and second trimester ultrasonographies of the younger sister were performed by inexperienced staff of a local urban hospital and the prenatal diagnosis of this case was not made. In this paper, we also discuss the prenatal diagnosis of Langer type mesomelic dysplasia.