PMC5902492_01
Photograph of the forearm of the proband's mother showing a Madelung deformity and bowing of the radius (black and white arrows), which gives the hand and the wrist the appearance of a dinner fork.
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F1
The mother had a disharmonic short stature (sitting H/H: 0.563 and SPAN/H: 0.953) and Madelung deformity of the forearm, which suggested a diagnosis of LWD (Figure 1).
(A) Photograph of the forearm of the proband. No Madelung deformity is present (black arrows). (B) Radiograph of the forearm of the proband at the age of 3 years: the white arrow shows a mild bowing of the radius in comparison to a normal radiograph (the one without arrow).
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F2
The physical examination was normal with no bone deformities or dysmorphism. The bone age of hand and wrist at a chronological age of 3 years conformed to the Greulich-Pyle atlas standard for 2.4 years, and an X-ray of the wrist and forearm ruled out severe radiological deformity except for a mild bowing of the radius (Figure 2).
PMC5902492_02
Partial electropherogram of the Sanger sequencing of SHOX in the patient shows (red arrow) the c.1044G>T mutation.
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PMC5902492_02_fendo-09-00163-g003.jpg
F3
The SHOX gene sequencing revealed the heterozygous missense variant c.1044 (c.1044 G>T) in exon 3 (Figure 3).