Literature DB >> 12072795

Hypohidrotic ectodermal dysplasia with tibial aplasia.

Ali Al Kaissi1, Maher Ben Ghachem, Mohamed Nebil Necib, Farid Ben Chehida, Hager Karoui, Michael Baraitser.   

Abstract

We report an inbred Tunisian family, in which 19 members had an ectodermal syndrome involving the teeth, hair, nails and skin. Ectrodactyly occurred as an isolated manifestation in one, and with tibial aplasia in two others. None had facial clefts. Dysplastic ears were part of the syndrome.

Entities:  

Mesh：

Year:  2002        PMID： 12072795     DOI： 10.1097/00019605-200207000-00004

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  5 in total

1.  Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

Authors:  Mohammed Naveed; Swapan K Nath; Mathew Gaines; Mahmoud T Al-Ali; Najib Al-Khaja; David Hutchings; Jeffrey Golla; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Uppala Ratnamala; Uppala Radhakrishna
Journal:  Am J Hum Genet       Date:  2006-11-29       Impact factor: 11.025

Review 2.  A review of supernumerary and absent limbs and digits of the upper limb.

Authors:  Zachary Klaassen; Monica Choi; Ruth Musselman; Deborah Eapen; R Shane Tubbs; Marios Loukas
Journal:  Surg Radiol Anat       Date:  2011-11-09       Impact factor: 1.246

3.  Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Nabil Nassib; Hatem Safi; Mrad Djnziri; Maher Ben Ghachem; Hassan Gharbi
Journal:  Afr Health Sci       Date:  2005-09       Impact factor: 0.927

4.  A patient with unilateral tibial aplasia and accessory scrotum: a pure coincidence or nonfortuitous association?

Authors:  Zoran Gucev; Marco Castori; Velibor Tasic; Nada Popjordanova; Arijeta Hasani
Journal:  Case Rep Med       Date:  2010-02-03

5.  A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Alexander Krebs; Franz Grill
Journal:  Cases J       Date:  2008-10-24
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.