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Arch Dis Child. 1982 March; 57(3): 212–216.
PMCID: PMC1627586

Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.

Abstract

A family is described in which 2 siblings born to healthy parents presented with abnormal facies, persistent diarrhoea, and early death. Exhaustive pathological and biochemical investigations failed to find a cause. The scalp hair of both babies had an abnormal amino-acid composition, and presented an appearance that was unique on scanning electron microscopical examination; this fact and the clinical picture probably represents a new syndrome.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Brown AC. Congenital hair defects. Birth Defects Orig Artic Ser. 1971 Jun;7(8):52–68. [PubMed]
  • Pollitt RJ, Stonier PD. Proteins of normal hair and of cystine-deficient hair from mentally retarded siblings. Biochem J. 1971 May;122(4):433–444. [PubMed]
  • Pollitt RJ, Jenner FA, Davies M. Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child. 1968 Apr;43(228):211–216. [PMC free article] [PubMed]
  • Brown AC, Belser RB, Crounse RG, Wehr RF. A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content. J Invest Dermatol. 1970 Jun;54(6):496–509. [PubMed]
  • Baden HP, Jackson CE, Weiss L, Jimbow K, Lee L, Kubilus J, Gold RJ. The physicochemical properties of hair in the BIDS syndrome. Am J Hum Genet. 1976 Sep;28(5):514–521. [PubMed]
  • Baum JD, Hughes EA, Harris DA. Neonatal hair as a record of intra-uterine nutrition. Biol Neonate. 1974;25(3-4):208–218. [PubMed]
  • Hartman DR, Fougere W, King KW. Diameter and amino acid changes in hair of Negro children with protein-calorie malnutrition. Proc Soc Exp Biol Med. 1966 Nov;123(2):542–544. [PubMed]
  • MENKES JH, ALTER M, STEIGLEDER GK, WEAKLEY DR, SUNG JH. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962 May;29:764–779. [PubMed]
  • ALLAN JD, CUSWORTH DC, DENT CE, WILSON VK. 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. [PubMed]
  • Tay CH. Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. Arch Dermatol. 1971 Jul;104(1):4–13. [PubMed]

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