title: Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy.
abstract: We present a fragile X family with unusual clinical manifestations. These findings, which often occur in the X-linked FG syndrome, include minor limb anomalies, cleft lip and palate, characteristic facial appearance, gastrointestinal problems and epilepsy, and intellectual disability. In a total sample of 54 fra(X) families, the frequency of minor limb anomalies was estimated to be 32% in the affected males and 19% in the female heterozygotes. These anomalies tend to occur in several members of the same family, where some craniofacial abnormalities reported as characteristic of the FG syndrome have also been encountered. Possible mechanisms for the occurrence of these unusual manifestations in the fra(X) families are discussed.
authors: Department of Psychology, La Trobe University, Melbourne, Australia.
authors: D Z
authors: DZ
authors: Loesch
authors: D A
authors: DA
authors: Hay
authors: L J
authors: LJ
authors: Sheffield
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002971:Cleft Lip; D002972:Cleft Palate; D004827:Epilepsy / Q000150:complications*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014034:Toes / Q000002:abnormalities