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

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...

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Bibliographic Details
Published in:European journal of pediatrics 1988-06, Vol.147 (5), p.539-543
Main Authors: HENNEKAM, R. C. M, VAN DE MEEBERG, A. G, VAN DOORNE, J. M, DIJKSTRA, P. F, BIJLSMA, J. B
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Adult
Biological and medical sciences
Body Height
Cataract
Child
Complex syndromes
Face - abnormalities
Female
Humans
Intellectual Disability - genetics
Male
Medical genetics
Medical sciences
Syndrome
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00441986