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J Med Genet. 1975 September; 12(3): 308–310.
PMCID: PMC1013297

A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.


This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.

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Selected References

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  • Barr AN, Grabow JD, Matthews CG, Grosse FR, Motl ML, Opitz JM. Neurologic and psychometric findings in the Brachmann-De Lange syndrome. Neuropadiatrie. 1971 Jul;3(1):46–66. [PubMed]
  • Freire-Maia N. Ectodermal dysplasias. Hum Hered. 1971;21(4):309–312. [PubMed]

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