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A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay

Der Kaloustian, Vazken M.a; Pelletier, Myriama; Costa, Teresab; Blackston, Dwain R.c; Oudjhane, Kamaldined


We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.

aThe F. Clarke Fraser Clinical Genetics Unit, Montreal Children's Hospital and Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada bDepartment of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada cDivision of Medical Genetics, Department of Pediatrics, Emory University, Atlanta, Georgia, USA dDepartment of Medical Imaging, Montreal Children's Hospital and McGill University, Montreal, Quebec, Canada

Received: 11 December 1999; accepted as revised: 17 July 2000

Correspondence to Vazken M. Der Kaloustian, MD, The F. Clarke Fraser Clinical Genetics Unit, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec H3H 1P3 Canada. Tel: (514) 934-4427; Fax: (514) 934-4329; E-mail:

© 2001 Lippincott Williams & Wilkins, Inc.