Literature DB >> 469662

Choanal atresia and associated multiple anomalies.

B D Hall.   

Abstract

Seventeen unrelated patients with multiple anomalies of unknown etiology were identified by the presence of choanal atresia. A regularly recurring pattern of associated features involving mental retardation, postnatal growth deficiency, hypogenitalism (males), small ears, cardiac defects, micrognathia, postnatal microcephaly, and ocular coloboma was identified. Choanal atresia when accompanied by multiple anomalies of unknown etiology has a serious prognosis with a predictable pattern of associated defects.

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Year:  1979        PMID: 469662     DOI: 10.1016/s0022-3476(79)80513-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  77 in total

Review 1.  Cranial neural crest cells on the move: their roles in craniofacial development.

Authors:  Dwight R Cordero; Samantha Brugmann; Yvonne Chu; Ruchi Bajpai; Maryam Jame; Jill A Helms
Journal:  Am J Med Genet A       Date:  2010-12-10       Impact factor: 2.802

2.  The Ohdo blepharophimosis syndrome: a third case.

Authors:  L G Biesecker
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

Review 3.  Chromodomain proteins in development: lessons from CHARGE syndrome.

Authors:  W S Layman; E A Hurd; D M Martin
Journal:  Clin Genet       Date:  2010-04-08       Impact factor: 4.438

4.  Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.

Authors:  D Johnson; N Morrison; L Grant; T Turner; J Fantes; J M Connor; V Murday
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

5.  CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Authors:  M C J Jongmans; R J Admiraal; K P van der Donk; L E L M Vissers; A F Baas; L Kapusta; J M van Hagen; D Donnai; T J de Ravel; J A Veltman; A Geurts van Kessel; B B A De Vries; H G Brunner; L H Hoefsloot; C M A van Ravenswaaij
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

6.  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

7.  Congenital nystagmus: a clinical perspective in infancy.

Authors:  S S Gelbart; C S Hoyt
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1988       Impact factor: 3.117

8.  Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases.

Authors:  Bogdana Tilea; Catherine Garel; Françoise Menez; Edith Vuillard; Monique Elmaleh-Bergès; Anne-Lise Delezoide; Guy Sebag
Journal:  Pediatr Radiol       Date:  2005-11-22

9.  Prevalence of genetic testing in CHARGE syndrome.

Authors:  Timothy S Hartshorne; Kasee K Stratton; Conny M A van Ravenswaaij-Arts
Journal:  J Genet Couns       Date:  2010-09-28       Impact factor: 2.537

10.  [Choroid-retinal coloboma and unusual facial features in a 16-year-old girl].

Authors:  A G Schnaidt; Z Gatzioufas; B Seitz; B Käsmann-Kellner
Journal:  Ophthalmologe       Date:  2013-12       Impact factor: 1.059

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