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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Jul;29(7):509–510.

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

S K Shapira 1, A S Neish 1, B R Pober 1
PMCID: PMC1016033  PMID: 1379303

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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Selected References

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  1. ALLAN J. D., CUSWORTH D. C., DENT C. E., WILSON V. K. A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. Lancet. 1958 Jan 25;1(7013):182–187. doi: 10.1016/s0140-6736(58)90666-4. [DOI] [PubMed] [Google Scholar]
  2. MENKES J. H., ALTER M., STEIGLEDER G. K., WEAKLEY D. R., SUNG J. H. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962 May;29:764–779. [PubMed] [Google Scholar]
  3. Price V. H., Odom R. B., Ward W. H., Jones F. T. Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol. 1980 Dec;116(12):1375–1384. doi: 10.1001/archderm.116.12.1375. [DOI] [PubMed] [Google Scholar]
  4. Robinson G. C., Johnston M. M. Pili torti and sensory neural hearing loss. J Pediatr. 1967 Apr;70(4):621–623. doi: 10.1016/s0022-3476(67)80050-7. [DOI] [PubMed] [Google Scholar]

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