Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data

Dauge, Coralie; Wells, Constance; Mousty, E.; Pinson, Lucile; Cavé, Hélène; Capri, Yline; Faure, Jean-Michel; Grosjean, Frédéric; Sauvestre, Fanny; Attié‐Bitach, Tania; Pelluard, Fanny; Geneviève, David

doi:10.1002/pd.6133

Cited by 4 publications

(2 citation statements)

References 61 publications

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“…The prenatal phenotype of NS shows a high prevalence of pleural effusion and hydrops, which are more common in fetuses with PTPN11 variants than in those with RIT1, NRAS, and RAF1 variants. 15 However, thick NT seems to be the most relevant indicator of NS in early pregnancy. Although studies found that fetuses with a high NT, normal karyotype and normal ultrasound findings had no increased risk of developmental delay compared with those with normal NT, we suggest that the affected pregnancies should be followed up to the third trimester, particularly focusing on fetal heart.…”

Section: Discussionmentioning

confidence: 96%

“…This was also the case in our three fetuses, in which increased NT or cystic hygroma was present. The prenatal phenotype of NS shows a high prevalence of pleural effusion and hydrops, which are more common in fetuses with PTPN11 variants than in those with RIT1 , NRAS , and RAF1 variants 15 . However, thick NT seems to be the most relevant indicator of NS in early pregnancy.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities

Yu,

Zhen,

Lin

et al. 2023

Prenatal Diagnosis

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Noonan syndrome (NS) is a common clinical variable disease characterized by a number of features, mainly including congenital heart defects, short stature, and a variable degree of developmental delay. This disorder is transmitted mostly in an autosomal dominant manner and is genetically heterogeneous. We report three prenatal cases of LZTR1‐related recessive NS. One case had a recurrent cystic hygroma at 13 weeks gestation and the pregnancy was terminated. Two cases had an increased nuchal translucency at 12 weeks' gestation, but a normal second trimester ultrasound; both presented with hypertrophic cardiomyopathy in the third trimester. The two infants were diagnosed with NS after birth. All of the three cases had invasive genetic investigations during pregnancy, and trio exome sequencing revealed biallelic likely pathogenic or pathogenic LZTR1 variants in the fetuses. All parents were LZTR1 variant carriers. Our report further strengthens the association of LZTR1 with an autosomal recessive form of NS. The affected fetuses are more likely to have cardiac anomalies. Clarification of molecular diagnosis has important implications in these families because they carry a 25% recurrence risk.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities

Yu,

Zhen,

Lin

et al. 2023

Prenatal Diagnosis

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Management of nutritional and gastrointestinal issues in RASopathies: A narrative review

Onesimo

Giorgio

Viscogliosi

et al. 2022

American J of Med Genetics Pt C

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Noonan, Costello, and cardio-facio-cutaneous syndrome are neurodevelopmental disorders belonging to the RASopathies, a group of syndromes caused by alterations in the RAS/MAPK pathway. They are characterized by similar clinical features, among which feeding difficulties, growth delay, and gastro-intestinal disorders are frequent, causing pain and discomfort in patients. Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan syndrome, Noonan syndrome-related disorders, Costello, and cardio-faciocutaneous syndromes. Fifty percent of children with Noonan syndrome may experience feeding difficulties that usually have a spontaneous resolution by the second year of life, especially associated to genes different than PTPN11 and SOS1. More severe manifestations often require artificial enteral nutrition in infancy are observed in Costello syndrome, mostly associated to c.34G>A substitution in the HRAS gene.In cardio-facio-cutaneous syndrome feeding issues are usually present (90-100% of cases), especially in individuals carrying variants in BRAF, MAP2K1, and MAP2K2 genes, and artificial enteral intervention, even after scholar age, may be required.Moreover, disorders associated with gastrointestinal dysmotility as gastroesophageal reflux and constipation are commonly reported in all the abovementioned syndromes. Given the impact on growth and on the quality of life of these patients, early evaluation and prompt personalized management plans are fundamental.

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Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome

Helenius

Parkkola²,

Arola³

et al. 2022

European Journal of Medical Genetics

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Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data

Cited by 4 publications

References 61 publications

Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities

Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review

Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome

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