Severe craniofacial sclerosis with multiple anomalies in a boy and his mother.
A boy is described with severe hyperostosis of the cranium and facial bones, and many other abnormalities including macrocephaly, abnormal facies, cleft palate, conductive hearing loss, speech defect, dental and digital anomalies, delayed skeletal development, short fibulas, short stature of postnatal onset, cervical kyphosis, and progressive lumbar lordosis. His mother exhibited craniofacial sclerosis, similar dental defects, and mild osteopathia striata without other abnormalities. This family may represent a previously undescribed inherited syndrome with cranial sclerosis.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005147:Facial Bones; D005260:Female; D006801:Humans; D008297:Male; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D012886:Skull; D013577:Syndrome