case_images: PMC10024621_01
case_images: Neonate with 18p 11.1 microdeletion syndrome.
case_images: CRIPE2023-2275582.001.jpg
case_images: PMC10024621_01_CRIPE2023-2275582.001.jpg
case_images: fig1
case_images: Clinical examination disclosed abnormal facial features including flat rounded face, absent nose, downturned corners of the mouth (Figure 1), cleft upper lip and palate (hard and soft palate) (Figure 2), microcephaly, bilateral iris coloboma, and low set ears (Figure 3).
case_images: Complete cleft upper lip with complete cleft hard and soft palate.
case_images: CRIPE2023-2275582.002.jpg
case_images: PMC10024621_01_CRIPE2023-2275582.002.jpg
case_images: fig2
case_images: Clinical examination disclosed abnormal facial features including flat rounded face, absent nose, downturned corners of the mouth (Figure 1), cleft upper lip and palate (hard and soft palate) (Figure 2), microcephaly, bilateral iris coloboma, and low set ears (Figure 3).
case_images: Low set ears.
case_images: CRIPE2023-2275582.003.jpg
case_images: PMC10024621_01_CRIPE2023-2275582.003.jpg
case_images: fig3
case_images: Clinical examination disclosed abnormal facial features including flat rounded face, absent nose, downturned corners of the mouth (Figure 1), cleft upper lip and palate (hard and soft palate) (Figure 2), microcephaly, bilateral iris coloboma, and low set ears (Figure 3).
case_images: Simian crease in hand.
case_images: CRIPE2023-2275582.004.jpg
case_images: PMC10024621_01_CRIPE2023-2275582.004.jpg
case_images: fig4
case_images: Other abnormalities were observed including central hypotonia, redundant skin over the nape of the neck, simian crease in the hand (Figure 4), clitoromegaly, bilateral congenital Talipes Equino Varus (CTEV) with rocker bottom feet, 4th finger overlapping to the 3rd and 5th ones.
case_images: Karyogram showing 46, XX, deletion of (18) (p11.1) karyotype, suggestive of a possible presence of a terminal deletion of chromosome 18 with the breakpoint located at the 18p11.1 region.
case_images: CRIPE2023-2275582.005.jpg
case_images: PMC10024621_01_CRIPE2023-2275582.005.jpg
case_images: fig5
case_images: The standard karyotype analysis was suggestive of chromosome 18p 11.1 deletion, than confirmed by Fluorescence In Situ Hybridization (FISH) (Figure 5).
case_images: Obturator was placed to separate nasal and oral cavity.
case_images: CRIPE2023-2275582.006.jpg
case_images: PMC10024621_01_CRIPE2023-2275582.006.jpg
case_images: fig6
case_images: Obturator was made and placed on follow-up dental visit which helped in feeding the baby effectively, resulting in adequate weight gain (Figure 6).