Literature DB >> 2468773

Limb anomalies in the CHARGE association.

P Meinecke1, A Polke, P Schmiegelow.   

Abstract

We report a male infant with iris coloboma, choanal atresia, postnatal retardation of growth and psychomotor development, genital anomaly, ear anomaly, and anal atresia. In addition, there was cutaneous syndactyly and nail hypoplasia of the second and third fingers on the right and hypoplasia of the left second finger nail. Comparable observations have rarely been reported and possibly represent genetic heterogeneity.

Entities:  

Mesh：

Year:  1989        PMID： 2468773      PMCID： PMC1015585          DOI： 10.1136/jmg.26.3.202

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


  6 in total

1.  The spectrum of clinical features in CHARGE syndrome.

Authors:  S L Davenport; M A Hefner; J A Mitchell
Journal:  Clin Genet       Date:  1986-04       Impact factor: 4.438

2.  [Diagnostic examination and genetic counseling in cases of choanal atresia with multiple malformations (the CHARGE combination)].

Authors:  M Rabaeus; C DeLozier; P Klauser
Journal:  J Genet Hum       Date:  1983-03

3.  Pathologic features of the CHARGE association: support for involvement of the neural crest.

Authors:  J R Siebert; J M Graham; C MacDonald
Journal:  Teratology       Date:  1985-06

4.  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

5.  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

6.  Congenital anomalies in patients with choanal atresia: CHARGE-association.

Authors:  B Koletzko; F Majewski
Journal:  Eur J Pediatr       Date:  1984-09       Impact factor: 3.183
  6 in total
  4 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.  Coloboma and anorectal malformations: a rare association with important clinical implications.

Authors:  Giulia Brisighelli; Andrea Bischoff; Marc Levitt; Jennifer Hall; Elizabeth Monti; Alberto Peña
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

Review 3.  CHARGE syndrome.

Authors:  Kim D Blake; Chitra Prasad
Journal:  Orphanet J Rare Dis       Date:  2006-09-07       Impact factor: 4.123

4.  Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.

Authors:  Hirosuke Inoue; Hidetoshi Takada; Takeshi Kusuda; Takako Goto; Masayuki Ochiai; Tadamune Kinjo; Jun Muneuchi; Yasushi Takahata; Naomi Takahashi; Tomohiro Morio; Kenjiro Kosaki; Toshiro Hara
Journal:  Eur J Pediatr       Date:  2010-01-06       Impact factor: 3.183
  4 in total

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