Familial Congenital Alopecia, Epilepsy, Mental Retardation with Unusual Electroencephalograms

Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage

“…To our knowledge, no more cases of this syndrome have so far been reported. We have observed two sibs of a consanguineous marriage (first cousins) whose case appears similar to those reported by Moynahan (1962). However, the parental family history is negative; in particular, no baldness, mental retardation or convulsions have been found in this pedigree.…”

“…The clinical phenotype of these two family members is similar to that described by Moynahan in 1962. However, the genetics of our cases differ fi'om Moynahan's patients in two aspects: (1) consanguinity (the parents were first cousins), and (2) the lack of baldness in both parents and in all relatives (whereas Moynahan (1962) reported some degree of alopecia in the father, the maternal atmt and the maternal grandfather).…”

“…Syndactyly was found in our female patient, her father and her maternal grandfather, who all showed a minor syndactyly between the second and the third digits of the feet. This was absent in the pedigree observed by Moynahan (1962) but could be irrelevant, since syndactyly is probably due to an independent single dominant gene (Moynahan, personal comnaunication, 1976). In addition, syndactyly is not rare in the Apulian region.…”

Congenital Atrichia with Nail Dystrophy, Abnormal Facies, and Retarded Psychomotor Development in Two Siblings: A New Autosomal Recessive Syndrome?

“…In one inbred family total alopecia was associated with mental and physical retardation (34). In another report, mental retardation and epilepsy were present in addition to baldness of the scalp (4). In contrast to other atrichia syndromes, the hair loss was temporary.…”

“…Congenital atrichia is a rare anomaly. It may occur without associated defects (1) or be accompanied by other symptoms, such as papular iesions (2), mental retardation (3,4), or pseudoanodontia (5). On the basis of such associations, several different syndromes featuring congenital atrichia can be distinguished.…”