Robinow syndrome

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.

Mesomelia

Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.


合計: 2

                       


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PMID (PMCID)
29575616
 FEMALE
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.
Danyel M, Kortum F, Dathe K, Kutsche K, Horn D.
Am J Med Genet A. 2018;176(4):992-996.
The phenotype of the Robinow syndrome-affected female reported here is typical as she shows mesomelia and mild hand anomalies as well as characteristic facial anomalies.
25045061
 MIXED_SAMPLE Child
An osteosclerotic form of Robinow syndrome.
Bunn KJ, Lai A, Al-Ani A, Farella M, Craw S, Robertson SP.
Am J Med Genet A. 2014;164A(10):2638-42.
Robinow syndrome (RS) is a clinically and genetically heterogenous condition primarily characterized by short stature, mesomelia, genital hypoplasia, oral abnormalities, and a facial gestalt that includes hypertelorism, a short nose, and a broad mouth.