CHARGE syndrome: A review

CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome.

[1]  P. Kileny,et al.  Clinical manifestations of CHARGE Association. , 1995, International journal of pediatric otorhinolaryngology.

[2]  T. Hartshorne,et al.  Behavior in CHARGE syndrome: Introduction to the special topic , 2005, American journal of medical genetics. Part A.

[3]  Marc S. Williams,et al.  CHARGE Association: An Update and Review for the Primary Pediatrician , 1998, Clinical pediatrics.

[4]  H. Heussler,et al.  Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well‐being , 2009, Developmental medicine and child neurology.

[5]  A Panigrahy,et al.  Olfactory Anomalies in CHARGE Syndrome: Imaging Findings of a Potential Major Diagnostic Criterion , 2008, American Journal of Neuroradiology.

[6]  P. Wheeler,et al.  Hypogonadism and CHARGE association. , 2000, American journal of medical genetics.

[7]  B. Hall.  Choanal atresia and associated multiple anomalies. , 1979, The Journal of pediatrics.

[8]  S. Waltzman,et al.  Cochlear Implantation in Children With CHARGE Syndrome: Therapeutic Decisions and Outcomes , 2007, The Laryngoscope.

[9]  Cammon B. Arrington,et al.  Interstitial deletion 8q11.2‐q13 with congenital anomalies of CHARGE association , 2005, American journal of medical genetics. Part A.

[10]  L. Hertz-Pannier,et al.  Olfactory Evaluation in Children: Application to the CHARGE Syndrome , 2005, Pediatrics.

[11]  N. J. Hirsch,et al.  Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. , 1979, Journal of pediatric ophthalmology and strabismus.

[12]  L. Hertz-Pannier,et al.  CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. , 2005, The Journal of clinical endocrinology and metabolism.

[13]  V. Bernstein,et al.  Repetitive behaviors in CHARGE syndrome: Differential diagnosis and treatment options , 2005, American journal of medical genetics. Part A.

[14]  S. Jacob,et al.  Adaptive behavior in children with CHARGE syndrome , 2005, American journal of medical genetics. Part A.

[15]  J. Curry,et al.  Current status of prenatal diagnosis, operative management and outcome of esophageal atresia/tracheo‐esophageal fistula , 2008, Prenatal diagnosis.

[16]  S. Aftimos,et al.  CHARGE association and secondary hypoadrenalism , 2002, American journal of medical genetics. Part A.

[17]  S. Kreiborg,et al.  Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome , 2013, Clinical genetics.

[18]  R. Dinwiddie,et al.  Lung involvement in the multisystem syndrome CHARGE association. , 1997, European Respiratory Journal.

[19]  H. Brunner,et al.  Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability , 2008, American journal of medical genetics. Part A.

[20]  M. Swertz,et al.  Mutation update on the CHD7 gene involved in CHARGE syndrome , 2012, Human mutation.

[21]  M. Rashid,et al.  Feeding Difficulties in Children with CHARGE Syndrome: Prevalence, Risk Factors, and Prognosis , 2008, Dysphagia.

[22]  R. Hennekam,et al.  Immunological abnormalities in CHARGE syndrome. , 2007, European journal of medical genetics.

[23]  A. Verloes.  Updated diagnostic criteria for CHARGE syndrome: A proposal , 2005, American journal of medical genetics. Part A.

[24]  R. Hopkin,et al.  Aspiration in children with CHARGE syndrome. , 2005, International journal of pediatric otorhinolaryngology.

[25]  J. Burn,et al.  Congenital heart disease in CHARGE association , 1993, Pediatric Cardiology.

[26]  A. Verloes,et al.  PRACTICAL GENETICS In association with CHARGE syndrome : an update , 2007 .

[27]  J. Connor,et al.  Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins , 2005, Journal of Medical Genetics.

[28]  K. Kosaki,et al.  Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome. , 2008, The Journal of clinical endocrinology and metabolism.

[29]  Ivan K. Chinn,et al.  Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. , 2007, Blood.

[30]  I. Smith,et al.  Behavioral profiles and symptoms of autism in CHARGE syndrome: Preliminary Canadian epidemiological data , 2005, American journal of medical genetics. Part A.

[31]  J. Leclerc,et al.  Choanal atresia and associated anomalies. , 1987, International journal of pediatric otorhinolaryngology.

[32]  A. Gennery,et al.  Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn‐like syndrome , 2008, Clinical and experimental immunology.

[33]  Bba,et al.  CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene , 2005, Journal of Medical Genetics.

[34]  F. Cameron,et al.  Growth failure and pituitary function in CHARGE and VATER associations , 1999, Archives of disease in childhood.

[35]  J. Graham,et al.  Behavioral features of CHARGE syndrome (Hall–Hittner syndrome) comparison with Down syndrome, Prader–Willi syndrome, and Williams syndrome , 2005, American journal of medical genetics. Part A.

[36]  P. Huygen,et al.  Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association. , 1997, International journal of pediatric otorhinolaryngology.

[37]  D. Morrison,et al.  Understanding obstructive sleep apnea in children with CHARGE syndrome. , 2012, International journal of pediatric otorhinolaryngology.

[38]  R. Pagon,et al.  Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. , 1981, The Journal of pediatrics.

[39]  R. Wiggins,et al.  Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. , 2006, AJNR. American journal of neuroradiology.

[40]  A. Munnich,et al.  Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. , 2001, American journal of medical genetics.

[41]  E. Zackai,et al.  CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features , 2009, Pediatrics.

[42]  K. Heimdal,et al.  The Cardiac Phenotype in Patients With a CHD7 Mutation , 2013, Circulation. Cardiovascular genetics.

[43]  F. Tremblay,et al.  Ocular features of CHARGE syndrome. , 2008, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

[44]  R. Hofstra,et al.  CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype , 2011, Journal of Medical Genetics.

[45]  D. Taylor,et al.  The eye in the CHARGE association. , 1990, The British journal of ophthalmology.

[46]  R. Wyse,et al.  Ear-nose-throat abnormalities in the CHARGE association. , 1993, Archives of otolaryngology--head & neck surgery.

[47]  E. Zackai,et al.  More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated , 2013, Molecular Syndromology.

[48]  Z. Rumboldt,et al.  Cochlear nerve deficiency in children with CHARGE syndrome , 2013, The Laryngoscope.

[49]  R. Kosaki,et al.  Ophthalmic features of CHARGE syndrome with CHD7 mutations , 2012, American journal of medical genetics. Part A.

[50]  Han G Brunner,et al.  Mutations in a new member of the chromodomain gene family cause CHARGE syndrome , 2004, Nature Genetics.