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Original Article

Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality

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Pages 149-155 | Accepted 21 Jun 1988, Published online: 08 Jul 2009
 

Abstract

A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radio-humeral fusion is reported in two sisters. The association seems to represent a new, probably autosomal recessive, oculo-reno-skeletal syndrome.

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