The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)

American Journal of Medical Genetics. Part a
Fransiska MalfaitAnne De Paepe

Abstract

Ehlers-Danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III. Although well documented in cattle, to date only seven human cases have been recorded, most of them aged under 2 years. We document the natural history of three patients with EDS dermatosparaxis type, two of whom have been reported before the age of 2 years, and one new patient. The phenotype of the patients, and especially the facial resemblance, is striking, making this a clinically recognizable condition. The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The children are at risk for rupture of internal organs due to soft tissue fragility, as is illustrated by different internal events in two of the three patients described here. Orofacial features include micrognathi...Continue Reading

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Citations

May 15, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Maureen Murphy-RyanNoralane M Lindor
Sep 18, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Fransiska MalfaitAnne De Paepe
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Nov 14, 2012·Annual Review of Genetics·Peter H Byers, Shawna M Pyott
Sep 6, 2008·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·P J De CosterA Huysseune
Nov 1, 2008·American Journal of Medical Genetics. Part a·Omer Bar-YosefJacob Kuint
Feb 23, 2012·Clinical Genetics·A De Paepe, F Malfait
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Jan 15, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Tim Van DammeFransiska Malfait
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Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
P J De CosterAnne De Paepe
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