X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: possible new syndrome
Language English Country United States Media print
Document type Case Reports, Journal Article
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-resources
- MeSH
- Eye Abnormalities genetics MeSH
- X Chromosome * MeSH
- Child MeSH
- Hypogonadism genetics MeSH
- Cataract genetics MeSH
- Humans MeSH
- Intellectual Disability genetics MeSH
- Microcephaly genetics MeSH
- Growth Disorders genetics MeSH
- Pedigree MeSH
- Muscle Spasticity genetics MeSH
- Syndrome MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports 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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