Literature DB >> 12370128

Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings.

Ahmet Akar1, Davut G l, Zeyir Erdem, Padmini Sarathchandra, Carolyn Tysoe, Mike Pope.   

Abstract

We report a 21 year-old Turkish male with acrogeric Ehlers-Danlos syndrome type IV, a rare autosomal dominant disorder. In addition to the usual findings, the patient also had glaucoma and some unusual skeletal features including impressio digitalis in the skull, prognathism of the lower jaw and maxiller hypoplasia, not previously described as part of acrogeric Ehlers-Danlos syndrome type IV. These features expand the phenotypic spectrum of acrogeric Ehlers-Danlos syndrome type IV.

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Year:  2002        PMID: 12370128

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  3 in total

1.  The diagnosis of art: Valentin le désossé and Ehlers-Danlos syndrome.

Authors:  Jeffrey K Aronson; Manoj Ramachandran
Journal:  J R Soc Med       Date:  2007-04       Impact factor: 5.344

2.  Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: a rarely reported association.

Authors:  Arijit Mitra; R Ramakrishnan; Mohideen Abdul Kader
Journal:  Indian J Ophthalmol       Date:  2014-08       Impact factor: 1.848

Review 3.  Ehlers-Danlos syndromes and their manifestations in the visual system.

Authors:  Samuel Asanad; May Bayomi; Douglas Brown; Joshua Buzzard; Eric Lai; Carlthan Ling; Trisha Miglani; Taariq Mohammed; Joby Tsai; Olivia Uddin; Eric Singman
Journal:  Front Med (Lausanne)       Date:  2022-09-27
  3 in total

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