Ruvalcaba syndrome: autosomal dominant inheritance.
A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. Less frequently seen were osteochondritis of the lumbar vertebral bodies, cone-shaped epiphyses of the phalanges, and narrow diaphyses of the metacarpals and metatarsals. None of the affected individuals was mentally retarded. The propositus, a 3-year-old boy, and his mother were typically affected, while his 8-month-old sister, the 55-year-old maternal grandfather, and his 46-year-old younger sister had several of these manifestations. Information on the remaining four affected relatives was incomplete. The syndrome was transmitted in a dominant fashion with variable expressivity. There were two instances of male-to-male transmission. This effectively ruled out X-linked inheritance. The transmission of the syndrome in three other reported pedigrees was also compatible with autosomal dominant inheritance with variable expressivity and incomplete penetrance.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome