Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome

Kurtoglu S., Dundar M., HALLAÇ I. K., Uzum K., OKUMUŞ Y., Oktem T.

CLINICAL GENETICS, cilt.51, sa.6, ss.408-411, 1997 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 6
  • Basım Tarihi: 1997
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.408-411
  • Erciyes Üniversitesi Adresli: Evet

Özet

Larsen's syndrome is characterised by multiple joint dislocations, flat face and talipes equinovarus. There is an autosomal dominant form and also a more severe autosomal recessive form. Several types of polycystic kidney disease have been reported in children. In this report we present an infant with a severe form of Larsen's syndrome (thought to be lethal Larsen-like), infantile-type polycystic kidney disease, biliary dysgenesis and osteosclerosis.