Literature DB >> 1379303

Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.

S K Shapira1, A S Neish, B R Pober.   

Abstract

We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.

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Year:  1992        PMID: 1379303      PMCID: PMC1016033     

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


  4 in total

1.  A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

Authors:  J D ALLAN; D C CUSWORTH; C E DENT; V K WILSON
Journal:  Lancet       Date:  1958-01-25       Impact factor: 79.321

2.  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

3.  Pili torti and sensory neural hearing loss.

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

4.  Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

Authors:  V H Price; R B Odom; W H Ward; F T Jones
Journal:  Arch Dermatol       Date:  1980-12
  4 in total

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