Craniometadiaphyseal dysplasia, wormian bone type.
We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition.
Santolaya
J M
JM
Department of Pediatrics, Basurto Hospital, Bilbao, Spain.
Hall
C M
CM
García-Miñaur
S
S
Delgado
A
A
D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D001133:Bones of Upper Extremity / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000145:classification* / Q000175:diagnosis / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006801:Humans; D007867:Leg Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D010294:Parietal Bone / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging