Further delineation of mandibulofacial dysostosis: Toriello type.
作者信息
Puri Ratna Dua, Phadke Shubha R
机构信息
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
出版信息
Clin Dysmorphol. 2002 Apr;11(2):91-3. doi: 10.1097/00019605-200204000-00003.
Abstract
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.
摘要
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