Winchester syndrome.
Winchester syndrome was first described in 1969 and since then nine patients have been reported in the literature. The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is based on clinical and radiological manifestations. We describe a case in a 7-year-old Pakistani boy.
Matthiesen
G
G
Department of Pediatrics, Glostrup University Hospital, Denmark. gima@dadlnet.dk
Pedersen
V F
VF
Helin
P
P
Jacobsen
G K
GK
Nielsen
N S
NS
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001168:Arthritis / Q000175:diagnosis; D002648:Child; D003286:Contracture / Q000175:diagnosis; D003316:Corneal Diseases / Q000175:diagnosis; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000175:diagnosis; D006227:Hand Deformities, Acquired / Q000000981:diagnostic imaging* / Q000209:etiology / Q000601:surgery*; D006801:Humans; D007223:Infant; D008297:Male; D008727:Methotrexate / Q000008:administration & dosage; D019637:Orthopedic Procedures / Q000379:methods; D010015:Osteolysis, Essential / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D011859:Radiography; D012720:Severity of Illness Index; D013577:Syndrome; D016896:Treatment Outcome
D008727:Methotrexate