A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay

Clinical Dysmorphology
V M Der KaloustianK Oudjhane

Abstract

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.

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Citations

Apr 20, 2001·Clinical Dysmorphology·R M Winter
Apr 2, 2004·Clinical Dysmorphology·F ForzanoM Di Rocco
May 19, 2009·Clinical Dysmorphology·Ian M HayesSalim Aftimos
Sep 1, 2007·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Ernesto PepeGiuseppe Cinalli
Nov 12, 2013·European Journal of Medical Genetics·Hatice Koçak EkerAlain Verloes
Jun 13, 2013·European Journal of Human Genetics : EJHG·N Di DonatoA Verloes
Apr 19, 2003·Clinical Genetics·J M Milunsky, D M Capin
Jul 24, 2014·European Journal of Human Genetics : EJHG·Alain VerloesDaniela T Pilz
Sep 15, 2016·Clinical Genetics·T M YatesD T Pilz
Mar 30, 2005·Journal of Child Neurology·Kette D ValenteMarcelo Valente
Jun 27, 2020·American Journal of Medical Genetics. Part a·Kermit ZhangKelly Usrey
Jun 9, 2020·American Journal of Medical Genetics. Part a·Karly HampshireAnne Slavotinek

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