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- W2898074291 abstract "Kabuki syndrome is a genetic disease caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. The incidence is approximately 1 in 32,000 newborns. The syndrome features include characteristic facial features (similar to the makeup used in traditional Japanese Kabuki Theatre), mild to severe developmental delay. People with Kabuki syndrome have and intellectual disability, hypotonic, nystagmus, skeletal abnormalities hip and knee joints anomalies, cleft palate, unusual fingerprints with features and fleshy pads. We report a case of a 28-year-old patient, with a previous normal child that presented for the anomaly scan at 24 weeks. The 11-13th weeks scan was reported as normal and combined risk was low. We found bilateral double kidney, single umbilical artery, nonspecific dysmorphic facial aspect and polyhydramnios. Genetic counsel was recommended and amniotic liquid cariotype was performed with normal result 46xx. On financial reasons the whole genome CG array was not accepted. The pregnancy evolution was uneventful and a 3100 g baby girl was delivered at term. At birth the baby had a posterior palate cleft that was overlooked on ultrasound. After birth many anomalies evolved hydrocephalus, dysmorphic features (cleft palate), delayed motor development, muscle hypertonia and muscle hypotonia, microcephaly, palpepbral ptosis, external ear malformation, stenosis of pulmonary artery, abnormal urinary system, and aganglionic megacolon. Whole-exome sequencing was performed and heterozygous variant c.5138_5146delinsCCTGC p.(Gly1713Alafs*8) discovered. Consequently Kabuki syndrome type 1 was diagnosed. Considering the AD transmission of the Kabuki it is of tremendous importance to identify if the parents are carriers or it is a de novo mutation. Prenatal diagnosis of the Kabuki syndrome cannot be made only on ultrasound signs that are not specific. Should the whole genome array been performed and the diagnosis established the pregnancy age would have been too advanced for TOP." @default.
- W2898074291 created "2018-10-26" @default.
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- W2898074291 date "2018-10-01" @default.
- W2898074291 modified "2023-10-18" @default.
- W2898074291 title "OP02.01: Prenatal ultrasound features in a case of Kabuki syndrome" @default.
- W2898074291 doi "https://doi.org/10.1002/uog.19401" @default.
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