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Inherited syndrome with mild psychomotor retardation, hypogonadism, short stature, brittle hair.

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Amish Brittle Hair Syndrome; BIDS; Brittle Hair, Intellectual Deficit, Decreased Fertility, and Short Stature Syndrome.

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Initially described in 25 children of an Amish kindred with autosomal recessive transmission.

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The most striking signs are brittle hair and short stature. The hair defect is secondary to a markedly reduced cystine content resulting in lack of sulfur-rich matrix proteins. The microscopic appearance of the hair shows an irregular and grooved surface. The same underlying defect seems to be responsible for nail dystrophy (brittle, short nails).

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The intellectual deficit usually is mild. Reduced fertility is secondary to hypogonadism.

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Obtain a full history of the patient's neurologic status. Depending on the severity of mental retardation, the patient may benefit from anxiolytic premedication. No specific anesthetic considerations.

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Brittle Hair and Mental Deficit Syndrome: Genetic disorder characterized by abnormal hair fibers and mental deficiency.

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Pollitt Syndrome: Inherited syndrome with developmental delay and trichorrhexis nodosa.

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Netherton Syndrome: Most likely autosomal recessive transmitted inborn error of metabolism that manifests with bamboo hair, atopic diathesis, congenital ichthyosiform erythroderma, and hypogammaglobulinemia.

Allen RJ: Neurocutaneous syndromes in children. Postgrad Med 50:83, 1971.  [PubMed: 5566208]
Jackson CE, Weiss L, Watson JH: “Brittle” hair with short stature, intellectual impairment and decreased fertility: An autosomal recessive syndrome in an Amish kindred. Pediatrics 54:201, 1974.  [PubMed: 4847854]

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