| Main clinical features
|
spondyloepimetaphyseal dysplasia characterized by severe short stature
craniofacial abnormalities included relative macrocephaly, severe midface hypoplasia with almost absent nasal cartilage, relative prognathism, and slightly low-set, posteriorly rotated ears
short necks and barrel chests and a mild lumbar lordosis
radiographic features included long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees; platyspondyly; and multiple cervical-vertebral clefts
hand findings included significant brachydactyly with short, broad thumbs, horizontal nails, and telescoping interphalangeal joints |