Documentation of anomalies not previously described in Fryns syndrome

Autor:	Enid Gilbert-Barness, John M. Opitz, Diane Debich-Spicer D, Sonya Rae Arnold
Rok vydání:	2002
Předmět:	congenital hereditary and neonatal diseases and abnormalities Anophthalmia business.industry Choanal atresia Anatomy medicine.disease Microphthalmia Hypoplasia Bilateral choanal atresia Midline facial cleft Fryns syndrome medicine business Cerebellar hypoplasia Genetics (clinical)
Zdroj:	American Journal of Medical Genetics. :179-182
ISSN:	1096-8628 0148-7299
DOI:	10.1002/ajmg.a.10763
Popis:	We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::9359242f6a881ce4c415b29133a37cb6 https://doi.org/10.1002/ajmg.a.10763 Zobrazit plný text záznamu Plný text