PMC6232786_01
Photo showed low-set and posteriorly rotated ear.
CRIG2018-2746347.001.jpg
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fig1
He was noted to have downslanted palpebral fissures, low-set and posteriorly rotated ears, wide space nipples, palmar crease, small hands and feet, rocker bottom feet, overgrowth 2nd toes, and overlapping 3rd and 4th toes (Figures 1, 2, 3, 4, and 5).
Photo showed wide-spaced nipples.
CRIG2018-2746347.002.jpg
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fig2
He was noted to have downslanted palpebral fissures, low-set and posteriorly rotated ears, wide space nipples, palmar crease, small hands and feet, rocker bottom feet, overgrowth 2nd toes, and overlapping 3rd and 4th toes (Figures 1, 2, 3, 4, and 5).
Photo showed palmar crease.
CRIG2018-2746347.003.jpg
PMC6232786_01_CRIG2018-2746347.003.jpg
fig3
He was noted to have downslanted palpebral fissures, low-set and posteriorly rotated ears, wide space nipples, palmar crease, small hands and feet, rocker bottom feet, overgrowth 2nd toes, and overlapping 3rd and 4th toes (Figures 1, 2, 3, 4, and 5).
Photo showed overgrowth of the second toe.
CRIG2018-2746347.004.jpg
PMC6232786_01_CRIG2018-2746347.004.jpg
fig4
He was noted to have downslanted palpebral fissures, low-set and posteriorly rotated ears, wide space nipples, palmar crease, small hands and feet, rocker bottom feet, overgrowth 2nd toes, and overlapping 3rd and 4th toes (Figures 1, 2, 3, 4, and 5).
Photo showed overlapping of the third and fourth toe.
CRIG2018-2746347.005.jpg
PMC6232786_01_CRIG2018-2746347.005.jpg
fig5
He was noted to have downslanted palpebral fissures, low-set and posteriorly rotated ears, wide space nipples, palmar crease, small hands and feet, rocker bottom feet, overgrowth 2nd toes, and overlapping 3rd and 4th toes (Figures 1, 2, 3, 4, and 5).
Arachnoid cyst at the velum interpositum (arrow).
CRIG2018-2746347.006.jpg
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fig6
Cranial MRI scan showed mildly dilated lateral and third ventricles, and there was a 17x13 mm arachnoid cyst at the velum interpositum (Figure 6).
(a) and (b) Photos showed hemihypertrophy.
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fig7
During 4 weeks of hospitalization, asymmetrical growth of left and right sides of the body and extremities was noted (Figure 7).
(a) Ideogram of chromosome 11 and deleted region (red bar) and genes involved with BWS. (b) Microarray showed 11p15.4 deletion (arrows).
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fig8
Taq with a GeneAmp PCR system 9700. There was a 77 kilobase (kb) microdeletion at 11p15.4 arr [hg19] 11p15.4(5,191,871-5,268,465) x 1(Figure 8). The deleted region includes 3 OMIM genes (HBB, HBD, and BGLT3).