Kniest dysplasia

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Micrognathia

Developmental hypoplasia of the mandible.


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(per page)
PMID (PMCID)
27152560
(5097703)
OTHER
Mandibular Distraction in a Patient With Type II Collagenopathy.
Garza RM, Alyono JC, Dorfman DW, Wan DC.
J Craniofac Surg. 2017;28(8):2073-2075.
Kniest dysplasia is an extremely rare form of type II collagenopathy associated with cleft palate, micrognathia, shortened trunk, arms and legs, and club foot.