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Biomedical subjects

B M Jones

Publications and source records attributed to B M Jones.

272 records · Page 16Linked to original sources

The hands in Saethre-Chotzen syndrome.

The hand radiographs of fifteen patients with a diagnosis of Saethre-Chotzen syndrome were reviewed by a radiologist with an interest in skeletal dysplasia along with the craniofacial team. Eleven patients exhibited a range of bone abnormalities of the following sites: thumbs, fingers, metacarpals, and the radius. The epiphysis of the distal phalanx of the thumb was most commonly involved site with 7 of the 15 patients affected. In addition to the structural abnormalities all cases before puberty (14 out of 15 patients in this series) showed variable delay of the bone age.

Acrocephalosyndactylia↗

The feet in Crouzon syndrome.

Eighteen patients with Crouzon syndrome were evaluated for anomalies of the feet. Clinical examination was unremarkable in all cases. Radiographs were evaluated by a radiologist with an interest in skeletal dysplasia, along with the craniofacial team. A range of radiographic anomalies was seen, with the phalanges, metacarpals, and tarsals all displaying anomalies. Only three cases had radiographically normal feet. These findings suggest that the effects on the feet, which, although subtle and not well described in the literature, are notable. Feet anomalies also occur with the other complex craniosynostosis syndromes resulting from mutations of fibroblastic growth factor receptor 2 molecule, such as those of Apert, Pfeiffer, and Jackson-Weiss syndromes.

Adolescent↗