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 consider it to be mandibulofacial dysostosis (MFD), Toriello type with some additional features.
Puri
Ratna Dua
RD
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Phadke
Shubha R
SR
D000293:Adolescent; D001827:Body Height; D019066:Facies; D034381:Hearing Loss; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000473:pathology*