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Case Reports
. 1988 Jun;147(5):539-43.
doi: 10.1007/BF00441986.

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

R C Hennekam  1 , A G van de Meeberg, J M van Doorne, P F Dijkstra, J B Bijlsma
Affiliations
Case Reports

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

R C Hennekam et al. Eur J Pediatr. 1988 Jun.

Abstract

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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References

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