case_images: PMC11754966_01
case_images: Patient at 21 years old. (A), (B), (C) Facial asymmetry, narrow nostrils, and small ears.
case_images: fgene-15-1354632-g001.jpg
case_images: PMC11754966_01_fgene-15-1354632-g001.jpg
case_images: F1
case_images: Regarding facial characteristics, the patient exhibited microcephaly (head circumference of 50 cm), asymmetry, a hypopigmented lesion in the right iris, narrow nostrils, and small ears (Figure 1). The patient's variant is found within the conserved paired box domain (PB) (Supplementary Figure S1), consisting of two subdomains required for all isoforms.
case_images: Patient at 21 years old. (A), (B), (C). Asymmetrical thorax with hypoplasia of the shoulder girdle, kyphoscoliosis, and pectus carinatum.
case_images: fgene-15-1354632-g002.jpg
case_images: PMC11754966_01_fgene-15-1354632-g002.jpg
case_images: F2
case_images: Additionally, the thorax displayed asymmetry with hypoplasia of the shoulder girdle, kyphoscoliosis, and pectus carinatum (Figure 2).
case_images: Patient at 21 years old. (A), (B), (C). Nail clubbing, increased distal interphalangeal joints in the fifth finger and proximal in second and third fingers bilaterally and shortening of the fifth finger and clinodactyly.
case_images: fgene-15-1354632-g003.jpg
case_images: PMC11754966_01_fgene-15-1354632-g003.jpg
case_images: F3
case_images: Hyperkinetic pulses were observed, along with bilateral cubitus valgus in the feet (Figure 3).
case_images: CARE timeline.
case_images: fgene-15-1354632-g004.jpg
case_images: PMC11754966_01_fgene-15-1354632-g004.jpg
case_images: F4
case_images: These medications aim to manage symptoms rather than provide curative treatment (Figure 4).