Literature DB >> 9832044

Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?

H L Peters1, A Bankier.   

Abstract

This case report describes a 4 year old boy with the unique triad of lipomatous myelomeningocele, congenital hypothyroidism secondary to thyroid agenesis, and sensorineural deafness. While associations between deafness and abnormal thyroid function and deafness and sacral lipoma have previously been described, the constellation of findings in this patient has not been reported.

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Year:  1998        PMID: 9832044      PMCID: PMC1051490          DOI: 10.1136/jmg.35.11.948

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


  15 in total

Review 1.  Pendred syndrome.

Authors:  W Reardon; R C Trembath
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

2.  Deafness in experimental hypo- and hyperthyroidism.

Authors:  A Kohonen; T Jauhiainen; K Liewendahl; J Tarkkanen; M Kaimio
Journal:  Laryngoscope       Date:  1971-06       Impact factor: 3.325

3.  Another example of the human homologue of the mouse mutant disorganization?

Authors:  I M van Langen; R C Hennekam
Journal:  Clin Dysmorphol       Date:  1994-10       Impact factor: 0.816

4.  Racial differences in the incidence of congenital hypothyroidism.

Authors:  A L Brown; P M Fernhoff; J Milner; C McEwen; L S Elsas
Journal:  J Pediatr       Date:  1981-12       Impact factor: 4.406

5.  Childhood hearing loss: epidemiology and implications.

Authors:  J D Schein
Journal:  Birth Defects Orig Artic Ser       Date:  1980

6.  Long-term sequelae of hearing impairment in congenital hypothyroidism.

Authors:  J Rovet; W Walker; B Bliss; L Buchanan; R Ehrlich
Journal:  J Pediatr       Date:  1996-06       Impact factor: 4.406

7.  Hearing in congenital hypothyroidism.

Authors:  F Debruyne; M Vanderschueren-Lodeweyckx; P Bastijns
Journal:  Audiology       Date:  1983

8.  Sensorineural hearing loss in sporadic congenital hypothyroidism.

Authors:  M Vanderschueren-Lodeweyckx; F Debruyne; L Dooms; E Eggermont; R Eeckels
Journal:  Arch Dis Child       Date:  1983-06       Impact factor: 3.791

9.  Hearing loss and cochlear abnormalities in the congenital hypothyroid (hyt/hyt) mouse.

Authors:  B W O'Malley; D Li; D S Turner
Journal:  Hear Res       Date:  1995-08       Impact factor: 3.208

10.  Audiological assessment of eleven congenital hypothyroid infants before and after treatment.

Authors:  M François; P Bonfils; J Leger; P Avan; P Czernichow; P Narcy
Journal:  Acta Otolaryngol       Date:  1993-01       Impact factor: 1.494

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  1 in total

1.  Long term maintenance of neural tube defects prevention in a high prevalence state.

Authors:  Julianne S Collins; Kristy K Atkinson; Jane H Dean; Robert G Best; Roger E Stevenson
Journal:  J Pediatr       Date:  2011-02-23       Impact factor: 4.406

  1 in total

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