case_images: PMC11813060_01
case_images: PMC11813060_02
case_images: (A) Facial photograph of the proband (frontal view and lateral view) showing dysmorphic features such as micrognathia, a prominent lower lip, a thin upper lip, a flat nasal bridge, and hypertelorism. (B) The full-body photo of the patient showed no skeletal deformities and scoliosis. Her breasts had already advanced to Tanner Stage 4. (C) Features of the patient's hands and feet.
case_images: medi-104-e41452-g001.jpg
case_images: PMC11813060_02_medi-104-e41452-g001.jpg
case_images: F1
case_images: Features of craniofacial dysmorphism were observed, including micrognathia, a prominent lower lip, a thin upper lip, a flat nasal bridge, and hypertelorism (Fig. 1A). The child could complete simple instructions, and there were no abnormalities in walking posture and climbing stairs (Fig. 1B). Tanner Stage 4 (Fig. 1C).
case_images: The bone age was precocious, with a bone age of 12.1 years.
case_images: medi-104-e41452-g002.jpg
case_images: PMC11813060_02_medi-104-e41452-g002.jpg
case_images: F2
case_images: The child's bone age is precocious, with a bone age of 12.1 years (Fig. 2).
case_images: Magnetic resonance imaging of the brain revealed widening of bilateral lateral ventricles (left ventricle 2 cm and right ventricle 1.8 cm).
case_images: medi-104-e41452-g003.jpg
case_images: PMC11813060_02_medi-104-e41452-g003.jpg
case_images: F3
case_images: Magnetic resonance imaging of the brain revealed widening of bilateral lateral ventricles (left ventricle 2 cm, right ventricle 1.8 cm) (Fig. 3).
case_images: Whole exome sequencing results of the proband and parents. It showed a large de vono duplication located in the 7p22.1p22.3 and Xp22.31p21.1 regions. BAF = B-allele frequency, CNV = copy number variation, DGV = database of genomic variants, HI = homozygous indel, LOH = loss of heterozygosity, OMIM = Online Mendelian Inheritance in Man, TS = translocation site.
case_images: medi-104-e41452-g004.jpg
case_images: PMC11813060_02_medi-104-e41452-g004.jpg
case_images: F4
case_images: Both parents were confirmed to not be carriers of the same duplication (Fig. 4).