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Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality
Author(s) -
Shokeir M. H. K.
Publication year - 1977
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1977.tb01271.x
Subject(s) - scalp , penetrance , pubic hair , epilepsy , abnormality , psychomotor retardation , cabello , vellus hair , body hair , medicine , hair loss , dermatology , x linked recessive inheritance , hair disease , audiology , pediatrics , biology , anatomy , psychiatry , genetics , pathology , x chromosome , alternative medicine , gene , phenotype
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 eight and psychomotor epilepsy in seven out 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 seven females and five males from six sibships, was transmitted through four generations. Utilizing the simple sib method, a ratio of 6/12 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.