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Martsolf's syndrome
Synonyms:
Cataract-mental retardation-hypogonadism syndrome, microcephaly-mental retardation-cataract-hypogonadism syndrome
Associated persons:
John T. Martsolf
Description:
A familial syndrome associated with a very long list of defects, including mental deficiency, short stature, gonadal hypofunction, "old looking" (progeroid) face, cataracts, microcephaly, brachycephaly, hypertelorism, low nasal bridge, talipes valgus, and short ulna.
The syndrome is transmitted as an autosomal recessive trait and has been reported to occur in consanguineous parents. The syndrome seems to appear mainly in patients of Jewish descent, but is also reported in other ethnic groups.
Bibliography:
- J. F. Cuendet, C. Netter, A. Catti, C. Verellen:
Association de cataracte congenitale et d'oligophrenie.
Bulletins et mémoires de la Société Francaise d'ophtalmologie, Paris, 1976, 87:164-168.
- J. T. Martsolf, A. G. W. Hunter, J. C. Haworth:
Severe mental retardation, cataracts, short stature amd primary hypogonadism in two brothers.
American Journal of Medical Genetics, New York, 1978, 1: 291-299.
- J. M. Sanchez, C. Barreiro and H. Freilij:
Two brothers with Martsolf’s syndrome.
Journal of Medical Genetics, London, 1985, 22: 308-310.
- P. Strisciuglio, M. Costabile, M. Esposito, S. Di Maio:
Martsolf's syndrome in a non-Jewish boy.
Journal of Medical Genetics , 1988, 25:267-269
- R. C. M. Hennekam, A. G. van de Meeberg, J. M. van Doorne, P. F. Dijkstra, J. B. Bijlsma:
Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.
European Journal of Pediatrics, Berlin, 1988, 147: 539-543.
- M. G. Harbord, M. Baraitser, J. Wilson:
Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. Journal of Medical Genetics, 1989, 26: 397-406.
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