PMID: 9429137Jan 16, 1998Paper

Muscular involvement in the Holt-Oram syndrome

Journal of Medical Genetics
S SprangerM Spranger

Abstract

Holt-Oram syndrome is an autosomal dominant disorder characterised by radial ray and congenital heart defects. Recently, a gene for this disorder has been identified on chromosome 12q24.1, encoding a T box transcription factor. However, the functional role of the gene product is not completely understood. We present results of neurological, radiological, and muscle magnetic resonance imaging (MRI) investigations in 13 patients from eight unrelated families. Besides heart defects, clinical signs ranged from thenar abnormalities to bilateral phocomelia. The former were present in all patients. MRI showed hypoplasia of discrete muscles which clinically showed as non-progressive weakness. The structural pattern of residual muscles was normal on MRI, which together with normal muscular power, electromyography, and muscle enzyme investigations excluded a progressive neuromuscular disorder. The number and location of hypoplastic muscles correlated with the severity of skeletal involvement. Thus, patients with hypoplasia of large and proximal muscles had phocomelia, and those with mere intrinsic hand muscle hypoplasia had only a triphalangeal thumb or no skeletal malformation. On the basis of these observations, we conclude that distur...Continue Reading

References

Oct 1, 1979·The Journal of Pediatrics·A T SmithG J Taylor
Apr 1, 1988·American Journal of Medical Genetics·H NajjarW L Nyhan
Feb 1, 1987·Journal of Medical Genetics·J G Hall
Oct 1, 1985·American Journal of Medical Genetics·A HayesR C Polomeno
Feb 1, 1982·European Journal of Pediatrics·N Van RegemorterF Rodesch
Dec 1, 1982·Journal of Medical Genetics·A Glanz, F C Fraser
Aug 1, 1994·Trends in Genetics : TIG·B G Herrmann, A Kispert
Apr 1, 1996·Journal of Medical Genetics·R A Newbury-EcobI D Young

❮ Previous
Next ❯

Citations

Dec 26, 2002·Annual Review of Immunology·Susanne J SzaboLaurie H Glimcher
Apr 27, 2013·Clinical Orthopaedics and Related Research·Kerby C Oberg
Sep 10, 2004·Clinical Genetics·D IsphordingH-G Simon
Mar 26, 2011·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Peleg Hasson
Feb 16, 2010·Developmental Cell·Peleg HassonMalcolm P O Logan
Apr 2, 2002·Journal of Child Neurology·Birkan SonelDeniz Evcik
Jan 27, 2015·The Open Orthopaedics Journal·James MaceRandeep Mohil
Aug 8, 2014·The Journal of Bone and Joint Surgery. American Volume·Daniel K MoonMatthew B Dobbs

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.