Literature DB >> 2051459

The CHARGE association and athyreosis.

J F Marín1, B García, A Quintana, R Barrio, M T Sordo, C Lozano.   

Abstract

We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). The coexistence of these two disorders has not been described previously.

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Year:  1991        PMID： 2051459      PMCID： PMC1016808          DOI： 10.1136/jmg.28.3.207

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  The pattern of cardiovascular malformation in the CHARGE association.

Authors:  A E Lin; A J Chin; W Devine; S C Park; E Zackai
Journal:  Am J Dis Child       Date:  1987-09

2.  Who's in CHARGE? Multidisciplinary management of patients with CHARGE association.

Authors:  K D Blake; I M Russell-Eggitt; D W Morgan; J M Ratcliffe; R K Wyse
Journal:  Arch Dis Child       Date:  1990-02       Impact factor: 3.791

3.  A reappraisal of the CHARGE association.

Authors:  C A Oley; M Baraitser; D B Grant
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

4.  Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

Authors:  R A Pagon; J M Graham; J Zonana; S L Yong
Journal:  J Pediatr       Date:  1981-08       Impact factor: 4.406

5.  Anatomic findings and management of choanal atresia and the CHARGE association.

Authors:  J U Coniglio; J V Manzione; A S Hengerer
Journal:  Ann Otol Rhinol Laryngol       Date:  1988 Sep-Oct       Impact factor: 1.547

Review 6.  The CHARGE association: choanal atresia and multiple congenital anomalies.

Authors:  L C Kaplan
Journal:  Otolaryngol Clin North Am       Date:  1989-06       Impact factor: 3.346
  6 in total
  2 in total

1.  Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings.

Authors:  A K Morimoto; R H Wiggins; P A Hudgins; G L Hedlund; B Hamilton; S K Mukherji; S A Telian; H R Harnsberger
Journal:  AJNR Am J Neuroradiol       Date:  2006-09       Impact factor: 3.825

2.  Growth failure and pituitary function in CHARGE and VATER associations.

Authors:  V V Khadilkar; F J Cameron; R Stanhope
Journal:  Arch Dis Child       Date:  1999-02       Impact factor: 3.791
  2 in total

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