title: Fryns "Anophthalmia-Plus" syndrome associated with developmental regression.
abstract: We report a boy with a nasal deformity, choanal atresia, bifid uvula, severe bilateral microphthalmia and a facial cleft who showed regression of development at the age of 2 years with subsequent improvement. We suggest he represents a further case of the rare Fryns "Anophthalmia-Plus" syndrome.
authors.affiliation: South Australian Clinical Genetics Service, Women and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.
authors.forename: Esko
authors.initials: E
authors.lastname: Wiltshire
authors.forename: Mark
authors.initials: M
authors.lastname: Moore
authors.forename: Theresa
authors.initials: T
authors.lastname: Casey
authors.forename: Greg
authors.initials: G
authors.lastname: Smith
authors.forename: Scott
authors.initials: S
authors.lastname: Smith
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Thompson
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000853:Anophthalmos / Q000473:pathology*; D002675:Child, Preschool; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D002658:Developmental Disabilities / Q000473:pathology*; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities