Diastrophic dwarfism

A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Clubbing

Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.


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PMID (PMCID)
12901408
 FEMALE Adult
Second-trimester sonographic diagnosis of diastrophic dysplasia: report of 2 index cases.
Wax JR, Carpenter M, Smith W, Grimes C, Pinette MG, Blackstone J, Cartin A.
J Ultrasound Med. 2003;22(8):805-8.
Each fetus had severe bilateral upper and lower extremity long bone shortening, hitchhiker thumbs and great toes, and clubbed feet, indicating a diagnosis of diastrophic dysplasia.