Cloverleaf skull associated with unusual skeletal anomalies.
A male infant with cloverleaf skull and multiple other birth defects born to unrelated, healthy, young parents is presented. Radiologic findings in addition to the cloverleaf skull configuration included short, wide clavicles, winged scapulae, unusual shapes of ribs with abnormal spacing between them and with prominent costovertebral junctions, and widely separated ischia. Ulnae appeared angular with probable fusion to the midportion of the radial bones bilaterally. There was polydactyly of the hands and feet with grossly abnormal metacarpal and metatarsal bones. Skeletal maturation was normal. Computed tomography of the skull showed dilated lateral and third ventricles as well as agenesis of the corpus callosum. The mother denies any teratogenic exposure during the pregnancy. The findings in this infant do not seem to fit into any previously described syndrome.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed