Literature DB >> 15107526

Bilateral anotia with congenital hypothyroidism.

Vaishali More1, Sanjeev R Ahuja, Hemant V Kulkarni, Madhuri V Kulkarni.   

Abstract

Bilateral anotia or microtia is known to be associated with multiple order malformations. The authors report a young infant who presented with failure to thrive and recurrent respiratory tract infections. The patient had bilaterally absent pinnae; instead small skin tags were present. He also had asymmetric crying facies and clinical evidence of hypothyroidism in the form of hoarse voice, constipation and generalized hypotonia. Thyroid function tests confirmed the diagnosis of hypothyroidism.

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Year:  2004        PMID: 15107526     DOI: 10.1007/bf02724112

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  9 in total

1.  Goldenhar syndrome with congenital athyrosis.

Authors:  V V Khadilkar; A V Khadilkar
Journal:  Indian Pediatr       Date:  2001-12       Impact factor: 1.411

2.  Toriello-Carey syndrome: evidence for X-linked inheritance.

Authors:  P Czarnecki; D Lacombe; L Weiss
Journal:  Am J Med Genet       Date:  1996-11-11

3.  A case of isotretinoin embryopathy with bilateral anotia and Taussig-Bing malformation.

Authors:  N Ceviz; B Ozkan; S Eren; R Ors; R Olguntürk
Journal:  Turk J Pediatr       Date:  2000 Jul-Sep       Impact factor: 0.552

Review 4.  Meier-Gorlin syndrome: report of eight additional cases and review.

Authors:  E M Bongers; J M Opitz; A Fryer; P Sarda; R C Hennekam; B D Hall; D W Superneau; M Harbison; A Poss; H van Bokhoven ; B C Hamel; N V Knoers
Journal:  Am J Med Genet       Date:  2001-08-01

5.  Ear length: a potential sonographic marker for Down syndrome.

Authors:  J T Awwad; G B Azar; K S Karam; K H Nicolaides
Journal:  Int J Gynaecol Obstet       Date:  1994-03       Impact factor: 3.561

6.  The triad of anotia, facial paralysis, and cardiac anomaly not due to thalidomide.

Authors:  F Matthies
Journal:  JAMA       Date:  1966-02-21       Impact factor: 56.272

7.  Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.

Authors:  I Llano-Rivas; A González-del Angel; V del Castillo; R Reyes; A Carnevale
Journal:  Arch Med Res       Date:  1999 Mar-Apr       Impact factor: 2.235

Review 8.  Familial microtia with meatal atresia and conductive deafness in five generations.

Authors:  A Gupta; M A Patton
Journal:  Am J Med Genet       Date:  1995-11-06

9.  Epidemiology and genetics of microtia-anotia: a registry based study on over one million births.

Authors:  P Mastroiacovo; C Corchia; L D Botto; R Lanni; G Zampino; D Fusco
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

  9 in total

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