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

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

CLINICAL GENETICS, cilt.50, sa.3, ss.159-163, 1996 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 3
  • Basım Tarihi: 1996
  • Doi Numarası: 10.1111/j.1399-0004.1996.tb02373.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.159-163
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Hayır

Özet

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.