Literature DB >> 2319580

A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.

A van Haeringen1, J A Hurst, R Savidge, M Baraitser.   

Abstract

A family is described in which the father and three of his seven children have microcephaly, mild to moderate mental retardation, and sparse hair. The two affected boys have generalised seizures in addition.

Entities:  

Mesh：

Year:  1990        PMID： 2319580      PMCID： PMC1016934          DOI： 10.1136/jmg.27.2.127

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


  5 in total

1.  Familial congenital alopecia, epilepsy, mental retardation with unusual electroencephalograms.

Authors:  E J MOYNAHAN
Journal:  Proc R Soc Med       Date:  1962-05

Review 2.  Congenital alopecia, seizures, and psychomotor retardation in three siblings.

Authors:  H B Wessel; M A Barmada; Y Hashida
Journal:  Pediatr Neurol       Date:  1987 Mar-Apr       Impact factor: 3.372

3.  A new alopecia/mental retardation syndrome.

Authors:  M Baraitser; C O Carter; E M Brett
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

4.  Congenital universal alopecia, mental deficiency, and microcephaly in two sibs.

Authors:  R A Pfeiffer; J Völklein
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

5.  Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality.

Authors:  M H Shokeir
Journal:  Clin Genet       Date:  1977-01       Impact factor: 4.438
  5 in total
  1 in total

1.  Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome.

Authors:  Ahmad S Teebi; Lucie Dupuis; Diane Wherrett; Anthony Khoury; Kenneth J Zucker
Journal:  Eur J Pediatr       Date:  2003-12-23       Impact factor: 3.183
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.