A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome)

American Journal of Medical Genetics. Part a
Michael T GabbettJulie M McGaughran

Abstract

We present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs.

References

Nov 1, 1991·American Journal of Medical Genetics·I K Temple, M Baraitser
Jun 22, 1989·The New England Journal of Medicine·K L JonesJ Adams
May 11, 2002·Clinical Dysmorphology·Têmis Maria FélixAna Maria S Machado Moraes

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Citations

Aug 5, 2010·American Journal of Medical Genetics. Part a·Adeline JacquinetFrançois-Guillaume Debray
Dec 21, 2013·American Journal of Medical Genetics. Part a·Gozde YesilYasemin Alanay
Aug 13, 2015·Human Genetics·Nuria C BramswigH-J Lüdecke
Jun 11, 2016·BMC Medical Genetics·André MégarbanéLotfi Chouchane
Nov 12, 2013·The Journal of Hand Surgery, European Volume·Ahmadreza Afshar
Jul 15, 2017·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·V Cázares-Ordoñez, L A Pardo
Apr 4, 2017·Oxidative Medicine and Cellular Longevity·Bo HanShangwei Hou
Sep 22, 2020·Clinical Dysmorphology·Hui WangHongfang Ding
Feb 18, 2021·European Journal of Human Genetics : EJHG·Karen W GrippKerstin Kutsche

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