Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Wieczorek, Dagmar; Majewski, F.; Giliessen-Kaesbach, Gabriele

doi:10.1111/j.1399-0004.1997.tb02512.x

Cited by 45 publications

(33 citation statements)

References 53 publications

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“…CFC patients with KRAS, BRAF, and MAP2K1/2 mutations have been found to show a high frequency of mental retardation (100%), sparse, curly hair (96%), and skin problems, including follicular keratosis (60%) and hyperkeratosis (56%) (Narumi et al 2007). In contrast, the rates of mental retardation (24-35%) and skin problems (2-27%) are lower in NS patients (Wieczorek et al 1997). Our patient NS84 is compatible with CFC syndrome because of his facial appearance, sparse curly hair, and moderate mental retardation.…”

Section: Discussionmentioning

confidence: 64%

“…Patients with Costello syndrome show distinctive coarse facial features, mental retardation, high birth weight, neonatal feeding problems, curly hair, nasal papillomata, loose integuments on the back of the hands, and hypertrophic cardiomyopathy (Hennekam 2003). CFC syndrome is characterized by a distinctive face, mental retardation, heart defects [PS, atrial septal defect (ASD) and hypertrophic cardiomyopathy], ectodermal abnormalities, such as sparse, friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition (Reynolds et al 1986;Wieczorek et al 1997).…”

Section: Introductionmentioning

confidence: 99%

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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

et al. 2008

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Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and mental retardation are more frequent in CFC syndrome. Mutations in PTPN11 and KRAS have been identified in patients with NS and those in KRAS, BRAF and MAP2K1/2 have been identified in patients with CFC syndrome, establishing a new role of the RAS/MAPK pathway in human development. Recently, mutations in the son of sevenless gene (SOS1) have also -008-0320-0 been identified in patients with NS. To clarify the clinical spectrum of patients with SOS1 mutations, we analyzed 24 patients with NS, including 3 patients in a three-generation family, and 30 patients with CFC syndrome without PTPN11, KRAS, HRAS, BRAF, and MAP2K1/2 (MEK1/2) mutations. We identified two SOS1 mutations in four NS patients, including three patients in the above-mentioned three-generation family. In the patients with a CFC phenotype, three mutations, including a novel three amino-acid insertion, were identified in one CFC patient and two patients with both NS and CFC phenotypes. These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome.123 J Hum Genet (2008) 53:834-841 DOI 10.1007/s10038

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Section: Discussionmentioning

confidence: 64%

Section: Introductionmentioning

confidence: 99%

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

et al. 2008

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“…9 There are several case reports where these neurological features are described in patients with CFC; however, there has never been a systematic evaluation of neurological involvement in this condition. [10][11][12][13][14][15] This report describes neurological features of the largest cohort of mutation-positive individuals with CFC reported to date.…”

mentioning

confidence: 97%

Neurological complications of cardio‐facio‐cutaneous syndrome

Yoon¹,

Rosenberg²,

Blasér³

et al. 2007

Develop Med Child Neuro

111

128

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Cardio‐facio‐cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart defects, and developmental and growth delay. Neurological complications associated with CFC remain to be clearly defined. Recent discovery of causative mutations in genes of the MAPK pathway (BRAF, MEK1, and MEK2) now permit accurate molecular diagnosis of CFC. The aim of the study was to characterize neurological features of participants with molecularly‐confirmed CFC. Medical records, and laboratory and imaging data were reviewed for 39 mutation‐positive individuals with CFC. Participants with a clinical diagnosis of CFC but a negative result on mutation screening of the BRAF, MEK1, and MEK2 genes were excluded from the study. Mean age of participants was 9 years 4 months (range 18mo‐24y); there were 24 females and 15 males. Mutations in B RA F were present in 32 participants, MEK1 in five, and MEK2 in two participants. Hypotonia, motor delay, speech delay, and learning disability were universally present in this cohort. Macrocephaly was present in 13 participants, ptosis in 11, strabismus in 14, and nystagmus in 11 of the 22 participants who underwent a neurological exam. Corticospinal tract findings were present in seven participants. Ventriculomegaly or hydrocephalus was present in 14 of 32 participants who underwent brain imaging. Other findings on magnetic resonance imaging included prominent Virchow‐Robin spaces (n=6), abnormal myelination (n=4), and structural anomalies (n=5). Seizures were present in 15 participants. No specific genotype‐phenotype correlation was observed.

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“…Ocular symptoms are frequently present as well (Reynolds et al, 1986, Borradori & Blanchet-Bardon, 1993Wieczorek et al, 1997;Young et al, 1993;Grebe & Clericuzio, 2000;Sabatino et al, 1997;Herman & McAlister, 2005;Chan et al, 2002). Many features of this syndrome are overlapping with Noonan syndrome causing diagnostic uncertainty especially in young infants.…”

Section: Cardio-facio-cutaneous Syndromementioning

confidence: 99%

Genetics of Cognition-What can Developmental Disorders Teach Us?

Kerner¹

2010

Cognitive Maps

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Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Cited by 45 publications

References 53 publications

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Neurological complications of cardio‐facio‐cutaneous syndrome

Genetics of Cognition-What can Developmental Disorders Teach Us?

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