Further delineation of mandibulofacial dysostosis: Toriello type Ratna Dua Puri and Shubha R. Phadke Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India Correspondence to Dr. Shubha R. Phadke, Assistant Professor, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow - 226014, India Tel.: +91 522 440800 Ext. 2325; Fax: +91 522 440017; E-mail: shubha@sgpgi.ac.in Received:13 July 2001; accepted:12 November 2001 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. Clin Dysmorphol 11:91–93 r 2002 Lippincott Williams & Wilkins Keywords: mandibulofacial dysostosis Toriello type, hearing loss, microcephaly, pectus excavatum INTRODUCTION There are many syndromes with mandibulofacial dysostosis (MFD) other than Treacher Collins syn- drome. Some of them are not well delineated as only a few cases have been reported. Here, we report a 14- year-old boy with MFD, deafness, microcephaly, cryptorchidism and mitral regurgitation consistent with MFD, Toriello type. CLINICALREPORT A 14-year-old male was evaluated for short stature. He was born at term by an uncomplicated vaginal delivery to non-consanguineous parents. There was no history of exposure to any probable teratogen during the antenatal period. The neonatal period was uneventful. He was the oldest of three sibs with an unremarkable family history. Examination at 14 years of age documented a height of 134cm (o3rd centile), weight of 23 kg (o3rd centile) and occipitofrontal circumference of 49.5 cm. (o3rd centile). His IQ was 90. He had a triangular face with a high nasal bridge, micrognathia and mild malar hypoplasia (Figure 1a and b). There was minimal downslanting of the palpebral fissures. The ears were lowset and posteriorly rotated. He did not have a coloboma of the lower lids or macrostomia. Limbs were normal. He had pectus excavatum (Figure 2). Bilateral orchidopexy had been carried out at 13 years of age. There was no axillary, facial or pubic hair. The scrotum had decreased rugosities and was hypopigmented. Both testes were in the scrotum. Investigations revealed bilateral moderate conduc- tive hearing loss and sensorineural hearing loss for high frequencies. Echocardiography confirmed exam- ination findings of mitral regurgitation. Roentgen- ograms and ophthalmological examination were within normal limits. The father’s face was normal. The mother and other siblings were reported not to have any resemblance to the boy. DISCUSSION The present case has facial features of mild mandibu- lofacial dysostosis with microcephaly, cryptorchidism, mitral regurgitation and pectus excavatum. The 0962-8827 r 2002 Lippincott Williams & Wilkins Clinical Dysmorphology 2002, Vol 11 No 2 91 Clinical Dysmorphology 2002, 11:91–93