case_images: PMC5902492_01
case_images: 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.
case_images: fendo-09-00163-g001.jpg
case_images: PMC5902492_01_fendo-09-00163-g001.jpg
case_images: F1
case_images: 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).
case_images: (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).
case_images: fendo-09-00163-g002.jpg
case_images: PMC5902492_01_fendo-09-00163-g002.jpg
case_images: F2
case_images: 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).
case_images: PMC5902492_02
case_images: Partial electropherogram of the Sanger sequencing of SHOX in the patient shows (red arrow) the c.1044G>T mutation.
case_images: fendo-09-00163-g003.jpg
case_images: PMC5902492_02_fendo-09-00163-g003.jpg
case_images: F3
case_images: The SHOX gene sequencing revealed the heterozygous missense variant c.1044 (c.1044 G>T) in exon 3 (Figure 3).