We present a case of a child affected by velopharyngeal insufficiency due to submucosal cleft, with consequent speech difficulties. Such clinical picture associated with other phenotypic characteristic of the child, suggested us the diagnosis of ectodermic dysplasia. Due to clinical affinity with Rapp-Hodgkin syndrome and oro-digito-facial syndrome type I, which are both classified in relation to ectodermic dysplasia, it is highly possible that our patient is affected by a still unknown syndrome, probably related to genetic mosaicism.
A case of ectodermic dysplasia [UN CASO DI DISPLASIA ECTODERMICA] / Salimbeni, C.; Santoro, ; R, .; Coscarelli, ; S, .; Frosini, ; P, .; Agostino,. - In: L'OTORINOLARINGOLOGIA PEDIATRICA. - ISSN 1120-3455. - ELETTRONICO. - 5:(1994), pp. 31-34.
A case of ectodermic dysplasia [UN CASO DI DISPLASIA ECTODERMICA]
SALIMBENI, CECILIA;SANTORO, ROBERTO;
1994
Abstract
We present a case of a child affected by velopharyngeal insufficiency due to submucosal cleft, with consequent speech difficulties. Such clinical picture associated with other phenotypic characteristic of the child, suggested us the diagnosis of ectodermic dysplasia. Due to clinical affinity with Rapp-Hodgkin syndrome and oro-digito-facial syndrome type I, which are both classified in relation to ectodermic dysplasia, it is highly possible that our patient is affected by a still unknown syndrome, probably related to genetic mosaicism.
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