Further delineation of mandibulofacial dysostosis: Toriello type

We report a boy who presented with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion and bilateral cryptorchidism. The pattern of malformations differs from the classical Treacher Collins syndrome. We cons...

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Bibliographic Details
Published inClinical dysmorphology Vol. 11; no. 2; p. 91
Main Authors Puri, Ratna Dua, Phadke, Shubha R
Format Journal Article
LanguageEnglish
Published England 01.04.2002
Subjects
Adolescent
Body Height
Facies
Hearing Loss
Humans
Male
Mandibulofacial Dysostosis - pathology
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Summary:We report a boy who presented with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion and bilateral cryptorchidism. The pattern of malformations differs from the classical Treacher Collins syndrome. We consider it to be mandibulofacial dysostosis (MFD), Toriello type with some additional features.
ISSN:0962-8827
DOI:10.1097/00019605-200204000-00003