Literature DB >> 6777601

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

T Perniola, G Krajewska, F Carnevale, M Lospalluti.   

Abstract

A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).

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Year:  1980        PMID： 6777601     DOI： 10.1007/bf02312522

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  Hereditary ectodermal dysplasia of anhidrotic type. A report of three cases in boys aged 3-4 months.

Authors:  H G JESPERSEN
Journal:  Acta Paediatr       Date:  1962-11       Impact factor: 2.299

2.  A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract.

Authors:  J FRANCOIS
Journal:  AMA Arch Ophthalmol       Date:  1958-11

3.  Hypotrichosis, syndactyly, and retinal degeneration in two siblings.

Authors:  B ALBRECTSEN; I B SVENDSEN
Journal:  Acta Derm Venereol       Date:  1956       Impact factor: 4.437

4.  A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.

Authors:  R W Ellis; S van Creveld
Journal:  Arch Dis Child       Date:  1940       Impact factor: 3.791

5.  A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.

Authors:  J H MENKES; M ALTER; G K STEIGLEDER; D R WEAKLEY; J H SUNG
Journal:  Pediatrics       Date:  1962-05       Impact factor: 7.124

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

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

7.  Menkes' kinky-hair syndrome.

Authors:  D M Danks; P E Campbell; J Walker-Smith; B J Stevens; J M Gillespie; J Blomfield; B Turner
Journal:  Lancet       Date:  1972-05-20       Impact factor: 79.321

8.  Pili torti and sensory neural hearing loss.

Authors:  G C Robinson; M M Johnston
Journal:  J Pediatr       Date:  1967-04       Impact factor: 4.406

9.  Retinal dystrophy combined with alopecia.

Authors:  A Björk; P Jahnberg
Journal:  Acta Ophthalmol (Copenh)       Date:  1975-11
  9 in total
  4 in total

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

Authors:  R C Hennekam; E G Renckens-Wennen
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

2.  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

3.  A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

Authors:  A Wali; P John; A Gul; K Lee; M S Chishti; G Ali; M J Hassan; S M Leal; W Ahmad
Journal:  Clin Genet       Date:  2006-09       Impact factor: 4.438

4.  Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.

Authors:  A Wali; G Ali; P John; K Lee; M S Chishti; S M Leal; W Ahmad
Journal:  Ann Hum Genet       Date:  2007-04-19       Impact factor: 1.670
  4 in total

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