Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome.
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.
Kurtoglu
S
S
Department of Pediatrics, School of Medicine, Erciyes University, Kayseri, Turkey.
Dundar
M
M
Hallaç
I K
IK
Uzüm
K
K
Okumuş
Y
Y
Oktem
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001659:Biliary Tract / Q000503:physiopathology*; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations; D007596:Joints / Q000002:abnormalities; D008099:Liver / Q000473:pathology; D008168:Lung / Q000473:pathology; D008297:Male; D010026:Osteosclerosis / Q000235:genetics; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome