Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia

American Journal of Medical Genetics
N C NevinP S Thomas

Abstract

We report on a boy with congenital hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantú et al., Hum Genet 60:36-41, 1982]. In all, five patients now are known to have this syndrome (2 females, 3 males). As the syndrome has been described in males and females and also in two sibs, inheritance is probably autosomal recessive.

Citations

Sep 5, 2002·American Journal of Medical Genetics·Hartmut EngelsHeiko Reutter
Apr 6, 2011·American Journal of Medical Genetics. Part a·Carla GraziadioGiorgio A Paskulin
Jun 25, 2010·Pediatric Pulmonology·Daisuke KobayashiDerek A Williams
Apr 10, 2014·American Journal of Medical Genetics. Part a·Jae Young ParkMi Lim Chung
Jun 26, 2002·Clinical Genetics·D Garcia-CruzJ M Cantu
Oct 26, 2000·American Journal of Medical Genetics·B LazaldeM de Lourdes Ramírez-Dueñas
May 23, 2012·Nature Genetics·Magdalena HarakalovaEdwin Cuppen
Mar 30, 2018·Clinical Dysmorphology·Helen I RoesslerMieke M van Haelst
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Nov 10, 2005·American Journal of Medical Genetics. Part a·Tiong Yang TanRavi Savarirayan
Feb 24, 2011·American Journal of Medical Genetics. Part a·Ingrid ScurrSarah Smithson
Dec 12, 2019·British Journal of Hospital Medicine·Hannah JesaniAbbas Zaidi
Feb 13, 2003·Journal of the American Academy of Dermatology·Daniel S WendelinSusan B Mallory

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