Literature DB >> 1177286

A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

N Freire-Maia, V A Fortes, L C Pereira, J M Opitz, F A Marcalle, I J Cavalli.   

Abstract

This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.

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Year:  1975        PMID: 1177286      PMCID: PMC1013297          DOI: 10.1136/jmg.12.3.308

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

1.  Ectodermal dysplasias.

Authors:  N Freire-Maia
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

2.  Neurologic and psychometric findings in the Brachmann-De Lange syndrome.

Authors:  A N Barr; J D Grabow; C G Matthews; F R Grosse; M L Motl; J M Opitz
Journal:  Neuropadiatrie       Date:  1971-07
  2 in total

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