Literature DB >> 2246773

Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy.

R C Hennekam1, E G Renckens-Wennen.   

Abstract

We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases.

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Mesh：

Year:  1990        PMID： 2246773      PMCID： PMC1017243          DOI： 10.1136/jmg.27.10.635

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


  10 in total

Review 1.  [The GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). A new case report].

Authors:  S Manouvrier-Hanu; C Largillière; J P Farriaux
Journal:  J Genet Hum       Date:  1988-08

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.  Atrichia with papular lesions and mental retardation in two sisters.

Authors:  V del Castillo; R Ruiz-Maldonado; A Carnevale
Journal:  Int J Dermatol       Date:  1974 Sep-Oct       Impact factor: 2.736

4.  Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.

Authors:  T Perniola; G Krajewska; F Carnevale; M Lospalluti
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

5.  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

6.  Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency.

Authors:  H H van Gelderen
Journal:  Am J Med Genet       Date:  1982-12

7.  A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation.

Authors:  A Schinzel
Journal:  Helv Paediatr Acta       Date:  1980-07

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

Authors:  M H Shokeir
Journal:  Clin Genet       Date:  1977-01       Impact factor: 4.438

9.  Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

Authors:  R E Tipton; R J Gorlin
Journal:  Am J Med Genet       Date:  1984-10

10.  Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.

Authors:  M D King; C L Gummer; J B Stephenson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318
  10 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

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