Ectodermal dysplasia with blindness in sibs on the island of Rodrigues.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1583659.
- Also identified by PMC identifier 1015952.
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Abstract
A brother and sister from the island of Rodrigues had mental retardation, blindness owing to severe ocular malformations, short stature, dysmorphic facial features, hypotrichosis, and dental abnormalities. It is likely that they have a hitherto unrecognised autosomal recessive ectodermal dysplasia syndrome.
Medical subject headings
- Blindness
- Ectodermal Dysplasia