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Fryns "Anophthalmia-Plus" syndrome associated with developmental regression
Esko Wiltshire1, Mark Moore, Theresa Casey
1South Australian Clinical Genetics Service, Women and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.
Clinical Dysmorphology
|January 7, 2003
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.