Abstract
We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.
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- Brown A. C., Belser R. B., Crounse R. G., Wehr R. F. A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content. J Invest Dermatol. 1970 Jun;54(6):496–509. doi: 10.1111/1523-1747.ep12259317. [DOI] [PubMed] [Google Scholar]
- Brown J. H., Walker S., Casto L., Howell R. R. Computerized data analysis of amino acids in physiologic fluids. J Chromatogr. 1976 Jan 21;116(2):293–304. doi: 10.1016/s0021-9673(00)89900-8. [DOI] [PubMed] [Google Scholar]
- Crandall B. F., Samec L., Sparkes R. S., Wright S. W. A familial syndrome of deafness, alopecia, and hypogonadism. J Pediatr. 1973 Mar;82(3):461–465. doi: 10.1016/s0022-3476(73)80121-0. [DOI] [PubMed] [Google Scholar]
- Goka T. J., Stevenson R. E., Hefferan P. M., Howell R. R. Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc Natl Acad Sci U S A. 1976 Feb;73(2):604–606. doi: 10.1073/pnas.73.2.604. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hernández A., Olivares F., Cantú J. M. Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation. Delineation of the syndrome. Clin Genet. 1979 Feb;15(2):147–152. doi: 10.1111/j.1399-0004.1979.tb01753.x. [DOI] [PubMed] [Google Scholar]
- Jackson C. E., Weiss L., Watson J. H. "Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics. 1974 Aug;54(2):201–207. [PubMed] [Google Scholar]
- Kaback M. M., Howell R. R. Infantile metachromatic leukodystrophy. N Engl J Med. 1970 Jun 11;282(24):1336–1340. doi: 10.1056/NEJM197006112822403. [DOI] [PubMed] [Google Scholar]
- Kulin H. E., Bell P. M., Santen R. J., Ferber A. J. Integration of pulsatile gonadotropin secretion by timed urinary measurements: an accurate and sensitive 3-hour test. J Clin Endocrinol Metab. 1975 May;40(5):783–789. doi: 10.1210/jcem-40-5-783. [DOI] [PubMed] [Google Scholar]
- Pollitt R. J., Jenner F. A., 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. doi: 10.1136/adc.43.228.211. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pollitt R. J., Stonier P. D. Proteins of normal hair and of cystine-deficient hair from mentally retarded siblings. Biochem J. 1971 May;122(4):433–444. doi: 10.1042/bj1220433. [DOI] [PMC free article] [PubMed] [Google Scholar]
- ROSSELLI D., GULIENETTI R. Ectodermal dysplasia. Br J Plast Surg. 1961 Oct;14:190–204. doi: 10.1016/s0007-1226(61)80036-2. [DOI] [PubMed] [Google Scholar]
- STEVANOVIC D. V. Alopecia congenita: the incomplete dominant form of inheritance with varying expressivity. Acta Genet Stat Med. 1959;9:127–132. [PubMed] [Google Scholar]