Literature DB >> 7295550

A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias.

M Pinheiro, L C Pereira, N Freire-Maia.   

Abstract

An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for different diagnosis.

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Year:  1981        PMID: 7295550     DOI: 10.1111/j.1365-2133.1981.tb00768.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  4 in total

1.  Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.

Authors:  N C Nevin; P S Thomas; D J Eedy; C Shepherd
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

2.  WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Authors:  Sadia Nawaz; Joakim Klar; Muhammad Wajid; Muhammad Aslam; Muhammad Tariq; Jens Schuster; Shahid Mahmood Baig; Niklas Dahl
Journal:  Eur J Hum Genet       Date:  2009-05-27       Impact factor: 4.246

3.  Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

Authors:  Lynn Adaimy; Eliane Chouery; Hala Megarbane; Salman Mroueh; Valerie Delague; Elsa Nicolas; Hanen Belguith; Philippe de Mazancourt; Andre Megarbane
Journal:  Am J Hum Genet       Date:  2007-08-09       Impact factor: 11.025

4.  Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature.

Authors:  Daipayan Chatterjee
Journal:  Indian J Hum Genet       Date:  2014-04
  4 in total

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