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Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder [PDF]
Journal of Clinical and Diagnostic Research, 2016 Cardiofaciocutaneous syndrome or CFC syndrome is a rare genetic disorder first described in 1986. It is one of the RASopathies involving multiple organs particularly the heart, skin and face affecting males and females equally.
Soutrik Seth +4 more
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Hepatic Tumor as Antenatal Presentation of Costello Syndrome
Journal of Health Science and Medical Research (JHSMR), 2021 A large hepatic mixed echoic mass occupying the left fetal abdomen was identified at 266/7 weeks. The mass showed peripheral and internal vascularity. Other ultrasound findings included edema of the fetal head and face, macrosomia, shortened long bones ...
Chusana Petpichetchian +4 more
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Türk Kardiyoloji Derneği Arşivi, 2014 Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis ...
Osman Güvenç +4 more
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The RASopathies: from pathogenetics to therapeutics
Disease Models & Mechanisms, 2022 The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron +2 more
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Indian Journal of Dermatology, Venereology and Leprology, 2007 Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation ...
Madhukara, J, Kumaran, MSendhil
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EBioMedicine, 2018 Costello syndrome is a “RASopathy” that is characterized by growth retardation, dysmorphic facial appearance, hypertrophic cardiomyopathy and tumor predisposition.
Daiju Oba +7 more
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Journal of Medical Genetics, 1998 Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain in later life.
N, Philip, S, Sigaudy
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Severe Scoliosis Associated with Costello Syndrome: A Case Report
Journal of Orthopaedic Surgery, 2006 Costello syndrome is characterised by dwarfism, unique cutaneous lesions, a distinct facial gestalt, and mental retardation. There have been no detailed reports of severe spinal deformities requiring surgical treatment as a complication of Costello ...
T Motosuneya +5 more
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Syndromic forms of congenital hyperinsulinism
Frontiers in Endocrinology, 2023 Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a very heterogeneous condition and represents the most common cause of severe and persistent hypoglycemia in infancy and childhood.
Martin Zenker, Klaus Mohnike, Katja Palm
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Syndrome de Costello: à propos d'une observation
The Pan African Medical Journal, 2012 Le syndrome de Costello appelé également syndrome Facio-cutanéo-squelettique est une anomalie rare du développement d'origine génétique de transmission autosomique dominante.
Mariam Tajir +6 more
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