Grant Syndrome

Clinical Features

Maclean et al. (1986) described father and daughter with a seemingly novel combination of clinical findings including persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae, and campomelia. According to photographs, the grandfather, who was 161 cm tall, appeared to be affected also. At birth, the daughter (the proposita) was hypotonic with bilateral dislocated wrists, dislocatable left hip, and bilateral femoral and tibial bowing with dimples at the apex of the bow. The father had sloping shoulders, could approximate the shoulder abnormally, and had prominent upward bowing of the clavicles laterally on chest x-ray. Although the disorder falls into the large general category of osteogenesis imperfecta, the author could not precisely categorize it and therefore called it by the family name.