Literature DB >> 9823490

A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.

S A Temtamy1, N A Meguid, S I Ismail, M I Ramzy.   

Abstract

We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Because he had a similarly affected brother and his parents were cousins we suggest autosomal recessive inheritance, X-linked recessive inheritance cannot be excluded. Differential diagnosis from other syndromes with preaxial brachydactyly and hyperphalangism is presented.

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Year:  1998        PMID: 9823490     DOI: 10.1097/00019605-199810000-00003

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


  10 in total

Review 1.  Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.

Authors:  Pushpanathan Muthuirulan; Terence D Capellini
Journal:  Curr Osteoporos Rep       Date:  2019-10       Impact factor: 5.096

2.  Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

Authors:  Yun Li; Kathrin Laue; Samia Temtamy; Mona Aglan; L Damla Kotan; Gökhan Yigit; Husniye Canan; Barbara Pawlik; Gudrun Nürnberg; Emma L Wakeling; Oliver W Quarrell; Ingelore Baessmann; Matthew B Lanktree; Mustafa Yilmaz; Robert A Hegele; Khalda Amr; Klaus W May; Peter Nürnberg; A Kemal Topaloglu; Matthias Hammerschmidt; Bernd Wollnik
Journal:  Am J Hum Genet       Date:  2010-12-10       Impact factor: 11.025

3.  Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

Authors:  Jing Tian; Ling Ling; Mohammad Shboul; Hane Lee; Brian O'Connor; Barry Merriman; Stanley F Nelson; Simon Cool; Osama H Ababneh; Azmy Al-Hadidy; Amira Masri; Hanan Hamamy; Bruno Reversade
Journal:  Am J Hum Genet       Date:  2010-12-10       Impact factor: 11.025

4.  Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Authors:  Nadja Ehmke; Almuth Caliebe; Rainer Koenig; Sarina G Kant; Zornitza Stark; Valérie Cormier-Daire; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Kirstin Hoff; Amit Kawalia; Holger Thiele; Janine Altmüller; Björn Fischer-Zirnsak; Alexej Knaus; Na Zhu; Verena Heinrich; Celine Huber; Izabela Harabula; Malte Spielmann; Denise Horn; Uwe Kornak; Jochen Hecht; Peter M Krawitz; Peter Nürnberg; Reiner Siebert; Hermann Manzke; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2014-12-04       Impact factor: 11.025

5.  Enamel, dentine and pulp in talon primary maxillary central incisors: a histomorphometric study.

Authors:  L Young; E Mass; L Beni; M Weinreb; A D Vardimon
Journal:  Eur Arch Paediatr Dent       Date:  2007-09

6.  First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Authors:  Manal M Thomas; Engy A Ashaat; Ghada A Otaify; Samira Ismail; Mona L Essawi; Mohamed S Abdel-Hamid; Heba A Hassan; Sonia A Alsaiedi; Mona Aglan; Mona O El Ruby; Samia Temtamy
Journal:  Mol Syndromol       Date:  2021-07-22

7.  Genetics and Genomic Medicine in Egypt: steady pace.

Authors:  Samia Ali Temtamy; Dalia Farouk Hussen
Journal:  Mol Genet Genomic Med       Date:  2017-01-17       Impact factor: 2.183

8.  Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height.

Authors:  Michael Guo; Zun Liu; Jessie Willen; Cameron P Shaw; Daniel Richard; Evelyn Jagoda; Andrew C Doxey; Joel Hirschhorn; Terence D Capellini
Journal:  Elife       Date:  2017-12-05       Impact factor: 8.140

Review 9.  Insights and Implications of Genome-Wide Association Studies of Height.

Authors:  Michael H Guo; Joel N Hirschhorn; Andrew Dauber
Journal:  J Clin Endocrinol Metab       Date:  2018-09-01       Impact factor: 5.958

10.  Chondroitin/dermatan sulfate glycosyltransferase genes are essential for craniofacial development.

Authors:  Judith Habicher; Gaurav K Varshney; Laura Waldmann; Daniel Snitting; Amin Allalou; Hanqing Zhang; Abdurrahman Ghanem; Caroline Öhman Mägi; Tabea Dierker; Lena Kjellén; Shawn M Burgess; Johan Ledin
Journal:  PLoS Genet       Date:  2022-02-22       Impact factor: 5.917

  10 in total

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