Short rib polydactyly syndrome in twins: Beemer-Langer type with polydactyly

Elcioglu N., Karatekin G., Sezgin B., Nuhoglu A., Cenani A.

CLINICAL GENETICS, vol.50, no.3, pp.159-163, 1996 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 3
  • Publication Date: 1996
  • Doi Number: 10.1111/j.1399-0004.1996.tb02373.x
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.159-163
  • Keywords: Beemer-Langer syndrome, lethal skeletal dysplasia, multiple gestation, short rib polydactyly syndrome, GROWTH-FACTOR RECEPTOR-3, CHROMOSOME 4P, ACHONDROPLASIA, MUTATIONS, ANOMALIES, GENE, OSTEOCHONDRODYSPLASIAS, DWARFISM, ENTITY, SIBS
  • Marmara University Affiliated: No

Abstract

We present premature female twin fetuses with concordant extremely shortened ribs, shea Limbs, macrocephaly, median cleft upper lip and facial dysmorphism. Based on radiological criteria and the pattern of associated abnormalities, a lethal short rib-polydactyly syndrome (Beemer-Langer type) was diagnosed. The differential diagnosis of this entity is discussed.