PMC7457575_01
Patient's phenotype at age 17.
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Her medical findings included stage 1 obesity (weight, 87 kg (P > 95); height, 1.65 m (P34); and body mass index (BMI), 31.96 kg/m2) and a head circumference of 59 cm (P > 99) (Figure 1).
Patient's round face.
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Physical examination evidenced a round face, broad nose, xanthelasmas in both lower lids, epicanthal fold, long palpebral fissures, an inner canthal distance of 3.5 cm (P75-97), and an outer canthal distance of 11.5 cm (P > 97) (Figures 2 and 3); as well as an abundant adipose panicle, speech delay, poor coordination, coarse hands with a length of 19 cm, and a third finger measuring 8.5 cm.
Increased outer canthal distance, xanthelasmas, and epicanthal folds.
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Physical examination evidenced a round face, broad nose, xanthelasmas in both lower lids, epicanthal fold, long palpebral fissures, an inner canthal distance of 3.5 cm (P75-97), and an outer canthal distance of 11.5 cm (P > 97) (Figures 2 and 3); as well as an abundant adipose panicle, speech delay, poor coordination, coarse hands with a length of 19 cm, and a third finger measuring 8.5 cm.
Laparoscopic total hysterectomy.
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At the age of 20, and with the previous administration of Factor VIII and FvW, a laparoscopic total hysterectomy with bilateral salpingectomy was performed using advanced bipolar energy and closing the cupula with barbed sutures (Figure 4).
Bicornuate uterus.
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The pathological examination of the specimen confirmed the diagnosis of bicornuate uterus, corresponding to the previous radiological findings (Figure 5).