G. Camera et al., NEW X-LINKED SPONDYLOEPIMETAPHYSEAL DYSPLASIA - REPORT ON 8 AFFECTED MALES IN THE SAME FAMILY, Journal of Medical Genetics, 31(5), 1994, pp. 371-376
We report on a probably new form of spondyloepimetaphyseal dysplasia (
SEMD) with an X linked inheritance pattern. Eight males were affected
in the same family. We were able to examine three adult patients and w
e studied the skeletal radiological aspect of one of these patients at
2 years 6 months and at 9 years of age. The main clinical features ar
e severe short trunked dwarfism, brachydactyly, normal facies, and nor
mal intelligence. Radiologically, the diaphyses of all the long bones
are short and broad. The epiphyses of the distal portion of the femora
and those of the proximal and distal portions of the tibia are embedd
ed in their metaphyses and there is marked narrowing of the intercondy
lar groove. There is moderate platyspondyly. Several vertebrae show an
anterior tongue in infancy and severe irregularities of the upper and
lower surfaces are present in adulthood. The 11th or 12th thoracic ve
rtebra is wedge shaped. The pelvis is narrow. The distal ulnae and fib
ulae are disproportionately long. The hands show radial deviation and
brachydactyly is present in the hands and feet. This X linked SEMD was
not detectable at birth.