case_images: PMC11282909_01
case_images: (a) Genetic test result of the patient showed splicing mutation GNAS C.432+2T>CP.?. The red arrow points to the mutation site. (b) Genetic test result of the patient's mother. (c) Genetic test result of the patient's father.
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case_images: Genetic testing confirmed that the patient had PHP 1a due to a GNAS gene intron5 splicing mutation chr20:57478848 C.432+2T>CP.? (NM_000516.7 (Figure 5a). The patient's mother had the same genetic mutation (Figure 5b) but did not exhibit AHO clinical signs or laboratory abnormalities, with a height of 140 cm and a weight of 37.2 kg, as well as normal levels of calcium, phosphorus, TSH, T3, T4, PTH, and sex hormone. His father's genetic test was normal (Figure 5c).
case_images: Postoperative pathology images of the soft tissues and fibroadipose tissues in lower leg of the patient.
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case_images: Postoperative pathology confirmed extensive ectopic ossification lesions in the soft tissues of the lower leg and fibrous adipose tissue with ossification (Figure 6).