Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome

Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome

The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac fail...

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Veröffentlicht in:Journal of medical genetics 1989-06, Vol.26 (6), p.397-400
Hauptverfasser: Harbord, M G, Baraitser, M, Wilson, J
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Cataract - genetics
Complex syndromes
Diagnosis, Differential
Female
Humans
Hypogonadism - genetics
Infant, Newborn
Intellectual Disability - genetics
Male
Medical genetics
Medical sciences
Microcephaly - genetics
Pedigree
Syndrome
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Zusammenfassung:The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac failure.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.26.6.397