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• W2978238783 abstract "We report a prenatal diagnosis of LEOPARD syndrome (LS). This rare syndrome is one of the RASopathies, including the more common Noonan syndrome, Costello, Cardiofaciocutaneous, Legius syndromes and neurofibromatosis-1. LS is characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, facial abnormalities, pulmonary stenosis, Abnormal genitalia, retarded growth deafness (LEOPARD): sensorineural. The finding of an abnormal nuchal translucency (NT) prompted evaluation. The early prenatal ultrasound and echocardiogram (echo) revealed no further abnormalities. Chromosomal microarray was normal. Growth was normal throughout pregnancy. Echo at 30w+3 showed a thick septum of 5.2mm. Glucose tolerance test was normal. At 34w, 6mm septal width and dysplastic stenotic pulmonary valve (flow velocity of 205cm/sec) were noted. This constellation raised the possibility of Noonan/LS and exom revealed a pathogenic de-novo missense mutation in PTPN11 gene, compatible with LS. The parents were counselled and elected to continue the pregnancy. A 3210 gram male was delivered at 37+3 week by Caesarean section; Apgar scores 3/6/8. O2 saturation was 88% and heart rate and blood pressure were normal. On physical examination a depressed nasal bridge, low set ears and a holosystolic pulmonary murmur were noted. ECG with superior axis and 1st degree AV block. X-ray showed cardiomegaly. Echo showed hypertrophic cardiomyopathy and dysplastic stenotic pulmonary valve. At 3 weeks, he had pulmonary valvuloplasty due to severe pulmonary stenosis. He is managed with a high dose beta-blocker and high calorie formula and is doing well. LS is diagnosed on the basis of lentignes and two cardinal features. Genetic testing (PTPN11, RAF1, BRAF, MAP2K1) confirm the diagnosis. A prenatal diagnosis of LEOPARD syndrome is rare, but the combination of abnormal NT, progressive cardiac hypertrophy and pulmonary stenosis should raise the suspicion of LS and prompt the appropriate consultations. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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• W2978238783 date "2019-09-30" @default.
• W2978238783 modified "2023-09-27" @default.
• W2978238783 title "OP15.08: Subtle findings at third trimester lead to the antenatal diagnosis of LEOPARD syndrome" @default.
• W2978238783 doi "https://doi.org/10.1002/uog.20800" @default.
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