PMID: 9188664Jun 13, 1997Paper

Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome

American Journal of Medical Genetics
R WallersteinL Nicholson

Abstract

We present a boy followed from age 5-13 years who is the fifth reported case of ter Haar syndrome. This is a recently-named entity comprising congenital glaucoma, hypertelorism, congenital heart defects and kyphoscoliosis, skeletal dysplasia, and developmental delay. These patients were originally thought to have an autosomal-recessive form of Melnick-Needles syndrome, and were only identified as having a distinct syndrome with the report of the fourth case. Probable autosomal-recessive inheritance is based on consanguinity in 4 of 5 cases. Ocular, cardiac, and craniofacial findings distinguish ter Haar syndrome as a distinct entity. Our patient is the longest survivor at present, suggesting that there is heterogeneity in this syndrome or, alternatively, that aggressive therapy of the congenital heart defects has significant effect.

References

May 1, 1987·American Journal of Medical Genetics·M Krajewska-WalasekR J Gorlin
May 1, 1987·American Journal of Medical Genetics·A E DonnenfeldE H Zackai
Dec 1, 1982·American Journal of Medical Genetics·B ter HaarJ de Jager

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Citations

Nov 13, 2012·BMC Medical Genetics·Charlotte L BendonDavid Johnson
Oct 10, 2013·European Journal of Human Genetics : EJHG·Gabrielle R WilsonPaul J Lockhart
Mar 24, 2009·European Journal of Medical Genetics·Munis DundarYusuf Ozkul
Sep 5, 2006·Journal of Cardiac Surgery·Semih BarlasCemil Barlas
Feb 18, 2011·Genesis : the Journal of Genetics and Development·Pilar Cejudo-Martin, Sara A Courtneidge
Nov 4, 2004·American Journal of Medical Genetics. Part a·Saskia M MaasRaoul C M Hennekam

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