Literature DB >> 3783624

Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.

P Strisciuglio, A Ballabio, G Parenti.   

Abstract

Hereditary malformations of the external ear, such as microtia and meatal atresia, not associated with other congenital defects or syndromes, are rarely reported. Only a few familial cases have been described in which both dominant and recessive inheritance has been suggested. We report a sibship in which a wide variation of expression is present and recessive inheritance can be postulated.

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Year:  1986        PMID: 3783624      PMCID: PMC1049785          DOI: 10.1136/jmg.23.5.459

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


  4 in total

1.  Letter: Familial microtia and meatal atresia.

Authors:  H Dar; S T Winter
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

2.  Recessive microtia, meatal atresia, and hearing loss. Report of a sibship.

Authors:  B W Konigsmark; G T Nager; H L Haskins
Journal:  Arch Otolaryngol       Date:  1972-08

3.  Familial microtia with meatal atresia in two sibships.

Authors:  L C Ellwood; S T Winter; H Dar
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

4.  Microtia and meatal atresia in mother and son.

Authors:  J Guizar-Vázquez; F Arredondo-Vega; I Rostenberg; C Manzano; S Armendares
Journal:  Clin Genet       Date:  1978-08       Impact factor: 4.438

  4 in total
  4 in total

Review 1.  Genetic Advances in the Understanding of Microtia.

Authors:  Craig Gendron; Ann Schwentker; John A van Aalst
Journal:  J Pediatr Genet       Date:  2016-09-23

Review 2.  Microtia: epidemiology and genetics.

Authors:  Daniela V Luquetti; Carrie L Heike; Anne V Hing; Michael L Cunningham; Timothy C Cox
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

3.  Microtia-anotia: a global review of prevalence rates.

Authors:  Daniela Varela Luquetti; Emanuele Leoncini; Pierpaolo Mastroiacovo
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2011-06-07

4.  A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Authors:  Chantal Farra; Khaled Yunis; Nadine Yazbeck; Marianne Majdalani; Lama Charafeddine; Rima Wakim; Johnny Awwad
Journal:  Appl Clin Genet       Date:  2011-07-06
  4 in total

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