X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu kazuistiky, časopisecké články
PubMed
8958326
DOI
10.1002/(sici)1096-8628(19961211)66:2<179::aid-ajmg10>3.0.co;2-q
PII: 10.1002/(SICI)1096-8628(19961211)66:2<179::AID-AJMG10>3.0.CO;2-Q
Knihovny.cz E-zdroje
- MeSH
- abnormality očí genetika MeSH
- chromozom X * MeSH
- dítě MeSH
- hypogonadismus genetika MeSH
- katarakta genetika MeSH
- lidé MeSH
- mentální retardace genetika MeSH
- mikrocefalie genetika MeSH
- poruchy růstu genetika MeSH
- rodokmen MeSH
- svalová spasticita genetika MeSH
- syndrom MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
We describe a male and his sister's son with microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, severe mental deficiency, progressive spasticity and growth retardation. Both affected males have brachycephaly, upslanting palpebral fissures, epicanthal folds, highly arched palate, small mouth, and retrognathia. Two maternal cousins of the propositus's mother may also have been affected. Chromosomal and metabolic findings in the propositus were normal. To our knowledge, this disorder has not been reported before as an X-linked syndrome.
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