Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome
CLINICAL GENETICS, cilt.51, sa.6, ss.408-411, 1997 (SCI-Expanded, Scopus)
- 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
- Anahtar Kelimeler: autosomal recessive, biliary dysgenesis, Larsen's syndrome, osteosclerosis, renal cyst
- 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.