Familial osteodysplasia.
A family with characteristics that have striking similarities to the syndrome of familial osteodysplasia is reported. The inheritance pattern appears to be autosomal dominant. The typical facies has a lack of vertical facial development and a functional prognathism caused by overclosure of the mandible and opening of the gonial angle. Midfacial hypoplasia and a pointed chin are characteristic. Alveolar and sutural bone growth in the face is diminished and associated with partial dental agenesis. Variable cranial digital markings and possible synostosis are also seen. These typical facial changes are associated with other bony and systemic abnormalities. The long bones have a flask shape and occasionally have increased cortical thickness. The superior pubic ramus is often thin and scoliosis is common. The dermatoglyphic pattern demostrates a distal triradius and small whorl abnormalities. The most significant laboratory values are an increased erythrocyte sedimentation rate and C3 complement found on the erythrocytes. The plasma fibrinogen level was low in all family members.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D005147:Facial Bones; D005260:Female; D006801:Humans; D008297:Male; D008445:Maxillofacial Development; D010012:Osteogenesis; D010375:Pedigree; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*