PMID: 9541110Apr 16, 1998Paper

Costello syndrome

Journal of Medical Genetics
N Philip, S Sigaudy

Abstract

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. Cardiomyopathy is frequent but other visceral involvement is rare. Mild to moderate mental retardation is usual and most patients exhibit a characteristic sociable and friendly personality. The pathogenesis and molecular basis of the syndrome are unknown and the diagnosis is reliant on clinical expertise. Papillomata represent the most characteristic manifestation but may arise late in life. The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyperpigmented skin are characteristic enough to allow an early diagnosis. Most cases have been sporadic, suggesting de novo dominant mutations.

References

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Citations

May 10, 2002·Prenatal Diagnosis·T Van den BoschK Devriendt
Oct 3, 2003·Pediatric Dermatology·Maria Rita NascaGiuseppe Micali
May 29, 2004·Journal of Pediatric Hematology/oncology·James Patrick O'NealPhillip Kevin Pellitteri
Dec 5, 2002·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·M A DelrueD Lacombe
Aug 30, 2007·European Journal of Pediatrics·M Cristina DigilioBruno Dallapiccola
Feb 6, 1999·American Journal of Medical Genetics·A M van EeghenR C Hennekam
Feb 1, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Raoul C M Hennekam
Sep 24, 2004·American Journal of Medical Genetics. Part a·Patricia I DicksonHenry J Lin
Mar 28, 2006·Prenatal Diagnosis·Jean-Marc LevaillantSylvie Manouvrier-Hanu
Apr 5, 2017·American Journal of Medical Genetics. Part a·David D SchwartzMarni E Axelrad
Feb 28, 2003·American Journal of Medical Genetics. Part a·Hiroshi KawameYoshimitsu Fukushima
Sep 5, 2002·American Journal of Medical Genetics·Angela E LinLinda Nicholson

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