Ablepheron macrostomia syndrome / Gillian T. MCCARTHY in Developmental Medicine & Child Neurology, 19-5 (October 1977)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 19-5 (October 1977) . - p.659-663 Titre : Ablepheron macrostomia syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Gillian T. MCCARTHY, Auteur ; Carolyn M. WEST, Auteur Année de publication : 1977 Article en page(s) : p.659-663 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Two male children are reported with similar features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=468 [article] Ablepheron macrostomia syndrome [Texte imprimé et/ou numérique] / Gillian T. MCCARTHY, Auteur ; Carolyn M. WEST, Auteur . - 1977 . - p.659-663. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 19-5 (October 1977) . - p.659-663 Index. décimale : PER Périodiques Résumé : Two male children are reported with similar features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=468

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