Fetal Costello syndrome: description of phenotype of <i>HRAS</i> exon 1 mutations

Nørgaard, Maja; Mogra, Ritu; Pinner, Jason; Kagan, Karl Oliver; Jørgensen, Mette W; Gjørup, V.; Petersen, Olav Bjørn; Sandager, Puk; Vogel, Ida

doi:10.1002/uog.20281

Cited by 2 publications

(2 citation statements)

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“…Key diagnostic elements that may raise the suspicion of CS in utero are polyhydramnios (which is reported in most pregnancies), supraventricular tachycardia, increased nuchal translucency, macrosomia and macrocephaly (usually after the 20th week of gestation), and peculiar fetal posture; reduced length of long bones has also been reported. 50 Fetal arrhythmias are rare and usually responsive to therapy. 50 , 51 The most common cause of polyhydramnios in association to fetal macrosomia is maternal diabetes, but once this condition is ruled out other causes of increased fetal size such as CS should be considered.…”

Section: Introductionmentioning

confidence: 99%

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Multidisciplinary Management of Costello Syndrome: Current Perspectives

Leoni¹,

Viscogliosi²,

Tartaglia³

et al. 2022

JMDH

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Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS . It belongs among the RASopathies, a group of syndromes characterized by alterations in components of the RAS/MAPK signaling pathway and sharing overlapping phenotypes. Its typical features include a distinctive facial appearance, growth delay, intellectual disability, ectodermal, cardiac, and musculoskeletal abnormalities, and cancer predisposition. Due to the several comorbidities having a strong impact on the quality of life, a multidisciplinary team is essential in the management of such a condition from infancy to adult age, to promptly address any detected issue and to develop appropriate personalized follow-up protocols and treatment strategies. With the present paper we aim to highlight the core and ancillary medical disciplines involved in managing the health challenges characterizing CS from pediatric to adult age, according to literature and to our large clinical experience.

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Section: Introductionmentioning

confidence: 99%

“… 50 Fetal arrhythmias are rare and usually responsive to therapy. 50 , 51 The most common cause of polyhydramnios in association to fetal macrosomia is maternal diabetes, but once this condition is ruled out other causes of increased fetal size such as CS should be considered. 52 …”

Section: Introductionmentioning

confidence: 99%