Total: 1 |
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PMID (PMCID) | ||
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12548740 |
FEMALE | Infant, Newborn |
Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1. | ||
Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Am J Med Genet A. 2003;117A(1):47-56. |
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We describe a female neonate with a unique constellation of features including anophthalmia and cryptophthalmos, temporal remnant "eye tags," bilateral cleft lip, unilateral cleft palate, a proboscis with absent nasal septum, choanal atresia, micrognathia, square stoma, and bilateral external auditory canal atresia. |