The cardiofaciocutaneous syndrome: prenatal findings in two patients

Witters, Ingrid; Denayer, Ellen; Brems, Hilde; Legius, Eric

doi:10.1002/pd.1891

Cited by 16 publications

(13 citation statements)

References 9 publications

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“…The Cardiofaciocutaneous (CFC) syndrome is also associated with a similar frequency of polyhydramnios and prematurity in a smaller series (Armour and Allanson, 2008). Prenatal ultrasonographic findings have been reported in two patients with CFCS and polyhydramnios, increased nuchal translucency, pyelectasis, ventriculomegaly, macrosomia and short femurs, similar to the features in the Costello syndrome patients in this report (Witters et al, 2008). Fetal atrial tachycardia was not observed.…”

Section: Discussionsupporting

confidence: 83%

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

et al. 2009

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Objective Delineate prenatal features of Costello syndrome (caused by HRAS mutations) which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition. Methods Literature and new cases classified as Group I (pre-HRAS), Group II (HRAS confirmed), and Group III (HRAS confirmed in natural history study, plus three contributed cases). Results Polyhydramnios occurred in most (mean 79%) pregnancies of cases in Groups I (98), II (107), and III (17), advanced paternal age and prematurity were noted in approximately half. Less frequent were nuchal thickening, ascites, shortened long bones, abnormal hand posture, ventriculomegaly, macrosomia, and macrocephaly. Fetal arrhythmia occurred in 9 cases (6 supraventricular or unspecified tachycardia, 1 unspecified arrhythmia, 2 premature atrial contractions, PACs); excluding 3 new cases and 2 with PACs, the estimated prenatal frequency is 4/222 (2%). Conclusion Costello syndrome can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and macrocephaly, and especially fetal atrial tachycardia. Consideration should be given for timely prenatal diagnostic studies for confirmative HRAS gene mutations, and for maternal treatment of serious fetal arrhythmia.

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Section: Discussionsupporting

confidence: 83%

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

et al. 2009

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“…In many cases, the three conditions may be genetically differentiated with Costello syndrome mutations found in the HRAS gene, Noonan syndrome mutations in the PTPN11, SOS1, and RAF1 genes, and cardiofaciocutaneous syndrome mutations in the BRAF, KRAS, MEK1, or MEK2 genes. A more detailed comparison of these syndromes is beyond the scope of this article, but is available elsewhere …”

Section: Discussionmentioning

confidence: 99%

“…A more detailed comparison of these syndromes is beyond the scope of this article, but is available elsewhere. 12,13 Congenital ichthyoses were also considered in our differential diagnosis. Severe forms of these genetically and phenotypically heterogeneous disorders of skin keratinization have been prenatally detected by ultrasound.…”

Section: Discussionmentioning

confidence: 99%

Second‐trimester prenasal and prefrontal skin thickening—Association with MECP2 triplication syndrome

Wax

Pinette

Smith

et al. 2013

J of Clinical Ultrasound

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MECP2 triplication syndrome is a rare and usually lethal genetic disorder characterized by progressive neurologic and cognitive regression. None of the four reported cases describe prenatal sonographic features of affected offspring. We report a second-trimester fetus with marked prefrontal and prenasal skin thickening, retrognathia, and later, third-trimester mild cerebral ventriculomegaly. Amniocyte karyotype was normal male, but newborn whole-genome oligonucleotide microarray showed duplication and triplication of chromosome Xq28 containing the MECP2 gene. Comparative genomic hybridization may be diagnostic in fetuses with prefrontal and prenasal skin thickening, additional sonographic findings, and normal karyotype.

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“…Prenatal diagnosis of fetuses with CS and CFC syndrome has now been reported23 24: amniocentesis was performed for suggestive features on antenatal scanning, including characteristic hand posture and polyhydramnios. Such techniques make available important information to prospective parents, allowing informed decisions regarding the pregnancy and optimising further management as appropriate.…”

Section: Prognostic and Management Implicationsmentioning

confidence: 99%

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature

Wright

Kerr

2010

Archives of Disease in Childhood

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The disorders described as the neuro-cardio-facio-cutaneous conditions (NCFCs) may all present with symptoms that are common in paediatric practice. They result from germline mutations in genes encoding kinases and other proteins interacting in the RAS-MAPK pathway. This review summarises these disorders, discussing their presenting features and clinical course, identifying overarching similarities and, conversely, features that can help to discriminate one condition from another. The genetic basis and importance of precise clinical diagnosis and molecular diagnostic confirmation when possible is discussed, given each condition's different prognosis, and the need to remain vigilant for specific complications.

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The cardiofaciocutaneous syndrome: prenatal findings in two patients

Cited by 16 publications

References 9 publications

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

Second‐trimester prenasal and prefrontal skin thickening—Association with MECP2 triplication syndrome

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature

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