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
Jun 1, 1977·Australian Paediatric Journal·J M Costello
Jul 1, 1992·American Journal of Medical Genetics·Z BorochowitzH Dar
Dec 1, 1991·American Journal of Medical Genetics·R A Martin, K L Jones
Oct 1, 1991·American Journal of Medical Genetics·V M Der KaloustianS Blaichman
Jun 1, 1994·Journal of Medical Genetics·S J Davies, H E Hughes
Sep 1, 1994·American Journal of Medical Genetics·I W Lurie
Jul 3, 1995·American Journal of Medical Genetics·A E Czeizel, L Tímár
Aug 15, 1993·American Journal of Medical Genetics·B SayC York
Aug 15, 1993·American Journal of Medical Genetics·A S Teebi, I S Shaabani
Aug 15, 1993·American Journal of Medical Genetics·R A Martin, K L Jones
Aug 15, 1993·American Journal of Medical Genetics·V M Der Kaloustian
Aug 15, 1993·American Journal of Medical Genetics·A S Teebi
Aug 15, 1993·American Journal of Medical Genetics·N Philip, J Mancini
Aug 15, 1993·American Journal of Medical Genetics·G ZampinoG Neri
Nov 15, 1993·American Journal of Medical Genetics·M Di RoccoC Borrone
Jul 1, 1993·Journal of Medical Genetics·M A Patton, M Baraitser
Feb 2, 1996·American Journal of Medical Genetics·M MoriM Y Momoi
Mar 15, 1996·American Journal of Medical Genetics·J M Costello
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
Jan 31, 2006·Journal of Medical Genetics·B KerrG Black
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
Apr 22, 2009·Prenatal Diagnosis·Angela E LinKaren W Gripp
Mar 11, 2000·American Journal of Human Genetics·A HinekR Weksberg