• Pin Fee Chong, Kohei Haraguchi, Michiko Torio, Makiko Kirino, Reina Ogata, Masaru Matsukura, Yasunari Sakai, Yoshito Ishizaki, Toshiyuki Yamamoto, and Ryutaro Kira.
• Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan. Electronic address: chong.p.f@fcho.jp.
• Brain Dev. 2015 Jan 1;37(1):171-4.

AbstractPontine tegmental cap dysplasia (PTCD) is a newly described brainstem malformation with distinct neuroimaging findings, characterized by a flattened ventral pons, cerebellar vermal hypoplasia and vaulted pontine tegmentum that forms a "caplike" or "beaklike" bulge projecting into the fourth ventricle. We describe a 3-month-old infant male who presented with typical neuroradiological findings as well as clinical features of PTCD. Notably, he manifested multiple anomalies with left ocular and facial hypoplasia, bilateral sensorineural hearing loss and rib and vertebral anomalies. Oculoauriculovertebral spectrum (OAVS) was thus considered to be an accompanying phenotype of this patient. The unique comorbidity seen in this patient suggests that PTCD and OAVS may partly share a common mechanism in their pathogenesis.Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

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