Literature DB >> 17569979

Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea.

J C Belfield1, J S Witana, D J A Connolly.   

Abstract

Melnick-Needles Syndrome is a rare disorder associated with many abnormalities. This case report describes a patient with Melnick-Needles Syndrome who was found to have bilateral hypoplasia of the cochlea, a finding not previously described in the literature. The case report describes the syndrome and demonstrates the findings on CT and MR imaging of temporal bones.

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Year:  2007        PMID: 17569979      PMCID: PMC8134128          DOI: 10.3174/ajnr.A0485

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN: 0195-6108            Impact factor:   3.825


  5 in total

1.  Mondini defect.

Authors:  S M Shah; S S Prabhu; R H Merchant
Journal:  J Postgrad Med       Date:  2001 Oct-Dec       Impact factor: 1.476

2.  [The Melnick-Needless syndrome (osteodysplasia). Report of a clinical case].

Authors:  T R Tripi
Journal:  Minerva Stomatol       Date:  1997-12

3.  A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

Authors:  Alberto Hidalgo-Bravo; Ericka N Pompa-Mera; Susana Kofman-Alfaro; Cesar R Gonzalez-Bonilla; Juan Carlos Zenteno
Journal:  Am J Med Genet A       Date:  2005-07-15       Impact factor: 2.802

4.  [Melnick-Needles syndrome. Report of a case].

Authors:  F Greco; L Mauceri; M Finocchiaro; A Fiumara; G Sorge
Journal:  Pediatr Med Chir       Date:  1998 Mar-Apr

5.  Deafness in Osteodysplasty of Melnick and Needles.

Authors:  S L Sellars; P H Beighton
Journal:  Arch Otolaryngol       Date:  1978-04
  5 in total
  2 in total

1.  Maxillofacial Changes in Melnick-Needles Syndrome.

Authors:  Leilane Larissa Albuquerque do Nascimento; Monica da Consolação Canuto Salgueiro; Mariana Quintela; Victor Perez Teixeira; Ana Carolina Costa Mota; Camila Haddad Leal de Godoy; Sandra Kalil Bussadori
Journal:  Case Rep Dent       Date:  2016-07-12

2.  Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.

Authors:  Regie Lyn P Santos-Cortez; Talitha Karisse L Yarza; Tori C Bootpetch; Ma Leah C Tantoco; Karen L Mohlke; Teresa Luisa G Cruz; Mary Ellen Chiong Perez; Abner L Chan; Nanette R Lee; Celina Ann M Tobias-Grasso; Maria Rina T Reyes-Quintos; Eva Maria Cutiongco-de la Paz; Charlotte M Chiong
Journal:  Genes (Basel)       Date:  2021-04-13       Impact factor: 4.096

  2 in total

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