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Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance

✍ Scribed by R. C. M. Hennekam; A. G. Meeberg; J. M. Doorne; P. F. Dijkstra; J. B. Bijlsma

Publisher
Springer
Year
1988
Tongue
English
Weight
825 KB
Volume
147
Category
Article
ISSN
0340-6997

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✦ Synopsis

A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts, hypogonadism and craniofacial anomalies including microcephaly, maxillary retrusion, pouting mouth, malaligned teeth and mildly dysplastic pinnae. The metacarpal and phalangeal bones are short. The occurrence of Martsolf syndrome in sibs of opposite sex suggests autosomal recessive inheritance.

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