Figure 1

Pedigree, dysmorphic features and radiographic findings in the affected family. (A) Pedigree of the consanguineous Omani family. The family displays typical recessive modes of inheritance. Double bar represents consanguinity. Affected members are represented by filled symbols. (B) Dysmorphic features (a) 10 year old affected boy, note short limbs, narrow chest and protuberant abdomen with everted umbilicus (b) &(c) short broad hands and feet with stubby fingers and toes with short hypoplastic nails (d) X-ray of the left hand at 10 years of age showing short and broad tubular bones with diaphyseal constriction, narrowing of the metacarpal bones proximally, triangular distal phallanges, and irregular epiphyses which are cone shaped. L on the upper left corner of the X-ray refers to left hand (e) Lateral X-ray of the spine showing platyspondyly with pear shaped vertebrae, some showing anterior beaking, irregularities of the vertebral endplated and punctate calcifications (f) X-ray of the upper arm at 10 years of age showing mesomelic shortening of the long bones, madelung deformity, and irregular distal epiphyses of radius and ulna.