EP09.82: Congenital diaphragmatic hernia and Pallister‐Killian Syndrome: a case report

Congenital diaphragmatic hernia (CDH) is a severe malformation where the abdominal contents pass into the thoracic cavity through a defect in the diaphragm. It has an incidence of 1/2,000- 1/3,000 newborns, making up 8% of all major congenital malformations. There are two CHD possible forms: anterior or Morgagni's and posterolateral or Bochdalek's. Some of the consequences of CHD are pulmonary hypoplasia, pulmonary hypertension, cardiac asymmetry, pericardial effusion and polyhydramnios. Ultrasound advances have allowed early diagnosis and management in prenatal life. We report the case of a 39-year-old primigravida woman attending a first trimester appointment. Ultrasonography revealed a suspected left-sided diaphragmatic defect with stomach and bowel loops in the left thorax, dextrocardia with levoápex, fetal growth in 16% centile and fetal 3.80mm NT. Amniocentesis was performed and the result was found to be abnormal with a diagnosis of Pallister Killiam Syndrome (Tetrasomy of the sharm of chromosome 12), male sex. Pallister-Killian syndrome is a rare chromosomal disorder caused by the presence of at least four copies of the short arm of chromosome 12 instead of the normal two due to the presence of an isochromosome 12p. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, a broad nasal bridge with a highly arched palate, low-set ears and wide mouth with thin upper lip. Intellectual disability, loss of muscle tone, and streaks of skin lacking colour are often present as well as vision and hearing problems, epilepsy, genital, skeletal and cardiac anomalies, congenital diaphragmatic hernia and anal atresia. CHD is reported to be a key sign in the prenatal diagnosis of this syndrome, so it is important to be aware of it in the presence of this finding. For all of the above reasons, appropriate genetic counselling is essential.