title: A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification.
abstract: We describe two sisters who have bilateral Coats reaction of the retina, intracranial calcification, sparse hair and dysplastic nails. The younger sibling has in addition distinct retinal angiomas in one eye. This combination of clinical findings has not been reported previously and is probably due to an autosomal recessive gene defect. Laser photocoagulation and cryotherapy has preserved good function in one eye of each child.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Glasgow.
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: B H
authors.initials: BH
authors.lastname: Browne
authors.forename: P M
authors.initials: PM
authors.lastname: McGettrick
authors.forename: J B
authors.initials: JB
authors.lastname: Stephenson
mesh_terms: D000505:Alopecia / Q000235:genetics*; D001927:Brain Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D002675:Child, Preschool; D005134:Eye Neoplasms / Q000235:genetics; D005260:Female; D006391:Hemangioma / Q000235:genetics; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D009264:Nails, Malformed / Q000235:genetics*; D012173:Retinitis / Q000235:genetics*; D013577:Syndrome