PMC9424661_01
(A) + (B) High eyebrow arch, wide eye distance, small eye fissure, double eyelid ptosis, flat nose bridge and slightly upturned nostrils; the middle sulcus was wide and long, and the ear was low and backward. (C) + (D) Hands/soles were small; fingers/toes were short and thick; little fingers on both hands were short and curved with a single finger fold. (E) Bilateral oblique inguinal hernia and shapeless scrotum complicated with cryptorchidism (after surgery). (F) Sacral tail skin depression. (G) Sternum depression, costal margin eversion and a flat navel.
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F1
Upon physical examination, older boy had a short and uniform body, small hands and soles, short and thick fingers and toes, short and curved little fingers on both hands with single finger pleats, high eyebrow arch, wide eye distance, wide eye cleft, drooping double eyelids, amblyopia, low and flat nose bridge, slightly upturned nostrils, low back and flapping ears, wide and long middle groove, sternal depression, oblique costal margin, inguinal hernia, shapeless scrotum with cryptorchidism (postoperatively), and sacral tail skin depression (Figure 1).
(A) + (B) High eyebrow arch, widening eye distance, small eye fissure and double eyelid ptosis; the nose bridge was flat, the nostrils were slightly elevated, the middle sulcus was wide and long, and the ear was low and backward. (C) + (D) Small hands/soles, short fingers/toes, and short little fingers curved with a single finger fold. (E) Shapeless scrotum. (F) Sacral caudal skin depression. (G) Sternal depression, outside costal margin turn and a flat navel.
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F2
The younger boy exhibited a proportionate short stature, small hands and soles, short and thick fingers and toes, short and curved little fingers on both hands with a single finger fold, wide eye distance and small eye cleft, double eyelid drooping, low nose bridge, slightly upturned nostrils, low and backward ear position, wind flapping ear, costal margin evagination, flat navel, shapeless scrotum, and sacral tail skin depression (Figure 2).
PMC9424661_02
Gene sequencing of family members with Aarskog-Scott syndrome, with the variation shown by arrows. (A). Case 1, FGD1 gene with (C).2015 + 1G>A semi-heterozygous variation. (B). Case 2, FGD1 gene with (C).2015 + 1G>A semi-heterozygous variation. (C). The children's cousin FGD1 gene with (C).2015 + 1G>A semi-heterozygous variation. (D). FGD1 gene with (C).2015 + 1G>A heterozygous variation. (E) FGD1 gene with (C).2015 + 1G>A heterozygous variation. (F). FGD1 gene with (C).2015 + 1G>A heterozygous variation. (G) FGD1 gene with (C).2015 + 1G>A heterozygous variation. (H). FGD1 gene with (C).2015 + 1G>A heterozygous variation.
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F3
The results are shown in Figure 3 and the family diagram is depicted in Figure 4.
Aarskog-Scott syndrome family diagram; IV-4,IV-6, and IV-7 had FGD1 gene C.2015 + 1G>A semi-heterozygous variation, including IV-6 and IV-7 who were our patients. C.2015 + 1G>A heterozygous variation of the FGD1 gene for III-2, III-4, III-6, and III-8; I-2 andI-2 had died, and were speculated to have harbored FGD1 gene variation.
fgene-13-932073-g004.jpg
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F4
The results are shown in Figure 3 and the family diagram is depicted in Figure 4.