Journal article

A new case of Martsolf syndrome.

E Bora, T Cankaya, A Alpman, E Karaca, O Cogulu, H Tekgul, F Ozkinay

Genet Couns | Published : 2007


Martsolf syndrome is an autosomal recessive syndrome characterized by microcephaly, mental retardation, cataract, hypogonadism and short stature. A seven-year-old boy was admitted to the hospital with growth retardation and difficulties in walking. His parents were first cousins. Bilateral lens extraction was performed during infancy because of congenital cataract. On physical examination he had short stature, microcephaly, micropthalmia, hypogonadism, mental retardation. Brain magnetic resonance imaging revealed alterations in the white matter. Up to date very few cases with this syndrome have been reported. This is the first case described in the Turkish population and may add valuable inf..

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University of Melbourne Researchers