PMC10024621_01
Neonate with 18p 11.1 microdeletion syndrome.
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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).
Complete cleft upper lip with complete cleft hard and soft palate.
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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).
Low set ears.
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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).
Simian crease in hand.
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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.
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.
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The standard karyotype analysis was suggestive of chromosome 18p 11.1 deletion, than confirmed by Fluorescence In Situ Hybridization (FISH) (Figure 5).
Obturator was placed to separate nasal and oral cavity.
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Obturator was made and placed on follow-up dental visit which helped in feeding the baby effectively, resulting in adequate weight gain (Figure 6).