Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality
- 1 January 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 11 (1) , 13-17
- https://doi.org/10.1111/j.1399-0004.1977.tb01271.x
Abstract
A syndrome of congenital and permanent universal alopecia, involving absence of scalp hair, eyebrows, eyelashes, axillary and pubic hair and the rest of the body hair is reported. Mental subnormality was noted in 8 and psychomotor epilepsy in 7 of 12 affected individuals. Pyorrhea was observed in all ascertained patients. No abnormality of nails or skin (apart from absence of hair) was noted. The disorder, which affected 7 females and 5 males from 6 sibships, was transmitted through 4 generations. Utilizing the simple sib method, a ratio of 1/2 was obtained for affected individuals. The vertical transmission of the disorder, implication of both sexes, male to male transmission, and the 1:1 (affected: unaffected) segregation ratio support autosomal dominant inheritance. Penetrance appears to be complete.This publication has 8 references indexed in Scilit:
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