CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years.

CHARGE syndrome was independently reported by Hall [(1979): J Pediatr 95:395-398] and Hittner et al. [(1979): J Pediatr Ophthalmol Strabismus 16:122-128] and was initially considered to be a non-random association between distinct multiple congenital anomalies. It is now considered to be a recognizable syndrome with well-characterized diagnostic criteria and a genetic pathogenesis. We report on a 33-year-old adult male with CHARGE syndrome, with emphasis on the unique medical, behavioral, and psychological issues faced in adulthood. Characteristic facial and ear abnormalities were obvious in early childhood, and bilateral retinal colobomata, left choanal atresia, right congenital hip dislocation, and hypogonadism were diagnosed during the first year. Walking was delayed due to vestibular problems, speech was impaired due to moderately severe hearing loss, and use of sign communication was limited. Choanal atresia was surgically corrected in infancy, and atrial septal defect, ventricular septal defect, and patent ductus arteriosus were surgically corrected in childhood. Undescended testes were removed in adolescence, and gallstones were removed in early adulthood. Puberty was delayed until hormone replacement therapy began at 15 years. Behavioral disturbances and anxiety persisted throughout childhood, adolescence, and into adulthood, often resulting from communication challenges. At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density.
AuthorsLisa C Searle, John M Graham Jr, Chitra Prasad, Kim D Blake
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 133A Issue 3 Pg. 344-9 (Mar 15 2005) ISSN: 1552-4825 [Print] United States
PMID15637714 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
CopyrightCopyright (c) 2005 Wiley-Liss, Inc.
  • Abnormalities, Multiple (pathology)
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Choanal Atresia (pathology)
  • Coloboma (pathology)
  • Deafness (pathology)
  • Ear (abnormalities)
  • Follow-Up Studies
  • Genitalia (abnormalities)
  • Growth Disorders (pathology)
  • Heart Defects, Congenital (pathology)
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Syndrome

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