Figure 1. [A mother and son, both affected with WNT5A-associated autosomal dominant Robinow syndrome]. - GeneReviews® - NCBI Bookshelf

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1.

Figure 1.

A mother and son, both affected with WNT5A-associated autosomal dominant Robinow syndrome

A. Affected mother in infancy

B, C. Affected son at birth

D. Mother (age 39 years) and son (age 2 years)

E. Son at age three years

Note the widely spaced and prominent eyes, high anterior hairline, frontal bossing, depressed nasal bridge, short nose with anteverted nares, wide nasal bridge with a broad nasal tip, long philtrum, midface retrusion, low-set ears, and limb shortening predominantly affecting the upper limbs.

From: Autosomal Dominant Robinow Syndrome

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Roifman M, Brunner H, Lohr J, et al. Autosomal Dominant Robinow Syndrome. 2015 Jan 8 [Updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 1. [A mother and son, both affected with WNT5A-associated autosomal dominant Robinow syndrome].
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