Fryns "Anophthalmia-Plus" syndrome associated with developmental regression.
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.
Wiltshire
Esko
E
South Australian Clinical Genetics Service, Women and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.
Moore
Mark
M
Casey
Theresa
T
Smith
Greg
G
Smith
Scott
S
Thompson
Elizabeth
E
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