Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to occur because of advanced paternal age, however, no chromosomal abnormality has been detected.
The cardinal clinical features include, short hands with stubby fingers and similarly affected feet and toes. In addition to that, vertebral abnormalities, flat face due to severe nasal hypoplasia, abnormally large mandible and dental malocclusion, pigmented skin, menstrual irregularities in females and mild to moderate intellectual disability are other associated clinical findings.
There is severe shortening of nasal bone, metacarpals, metatarsals and phalanges. Premature fusion of epiphysis. Abnormal cone-shaped epiphysis and epiphyseal stippling are common radiological features.
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