case_images: PMC11402074_01
case_images: Frontal view of the patient.
case_images: 10.1177_2050313X241277350-fig1.jpg
case_images: PMC11402074_01_10.1177_2050313X241277350-fig1.jpg
case_images: fig1-2050313X241277350
case_images: Clinical examination revealed a short stature (-1 SD), hypotonic face, facial dysmorphia (brachycephaly, short sling, horizontal eyebrows, bilateral epicanthus, flat nasal bridge, small triangular nose, broad columella, anteverted nostrils, cupid-bow shaped upper lip, helix badly hemmed) (Figure 1), bilateral single transverse palmar creases, bilateral cryptorchidism, and scoliosis.
case_images: Evolutionary conservation of the glycine amino acid at position 249 of ATRX gene across 12 species.
case_images: 10.1177_2050313X241277350-fig2.jpg
case_images: PMC11402074_01_10.1177_2050313X241277350-fig2.jpg
case_images: fig2-2050313X241277350
case_images: The protein alignment showed a high conservation for the mutated amino acid in the ATRX protein among different species (Figure 2).