Literature DB >> 22050072

Auriculo-condylar syndrome.

M J Papagrigorakis1, M Karamolegou, G Vilos, C Apostolidis, K Karamesinis, P N Synodinos.   

Abstract

The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal dominant pattern. Both familial and individual cases are reported in the literature. The syndrome is characterized by wide phenotypic variation, with affected individuals expressing clinical signs of variable severity due to variable expressivity of the responsible genes. Clinical signs of the syndrome include auricular malformation, hypoplasia of the mandibular condyles, anomalies of the temporomandibular joints, malocclusion, and, in more severe cases, cleft palate, glossoptosis, facial asymmetry, and respiratory problems. The aim of this article is to report a case of a female patient with signs of the auriculo-condylar syndrome and to present the pedigree of her family. Clinical findings, diagnosis, treatment plan, and final treatment are analyzed.

Entities:  

Mesh:

Year:  2011        PMID: 22050072      PMCID: PMC8865813          DOI: 10.2319/052911-356.1

Source DB:  PubMed          Journal:  Angle Orthod        ISSN: 0003-3219            Impact factor:   2.079


  16 in total

1.  Auriculo-condylar syndrome: further evidence for a new disorder.

Authors:  M L Guion-Almeida; N M Kokitsu-Nakata; R M Zechi-Ceide; S Vendramini
Journal:  Am J Med Genet       Date:  1999-09-10

Review 2.  Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?

Authors:  M Priolo; M Lerone; L Rosaia; E P Calcagno; A K Sadeghi; F Ghezzi; R Ravazzolo; M Silengo
Journal:  Clin Dysmorphol       Date:  2000-10       Impact factor: 0.816

3.  Malformation of ear associated with urogenital anomalies.

Authors:  R W VINCENT; R F RYAN; C G LONGENECKER
Journal:  Plast Reconstr Surg Transplant Bull       Date:  1961-08

Review 4.  The question mark ear (congenital auricular cleft): a familial case.

Authors:  T Takato; H Takeda; M Kamei; K Uchiyama
Journal:  Ann Plast Surg       Date:  1989-01       Impact factor: 1.539

5.  The Question Mark ear.

Authors:  B Cosman; H Bellin; G F Crikelair
Journal:  Plast Reconstr Surg       Date:  1970-11       Impact factor: 4.730

6.  Three-dimensional approach to analysis and treatment of hemifacial microsomia.

Authors:  L B Kaban; J B Mulliken; J E Murray
Journal:  Cleft Palate J       Date:  1981-04

7.  Intraoral distraction osteogenesis of the mandible in hemifacial microsomia.

Authors:  A Rachmiel; R Manor; M Peled; D Laufer
Journal:  J Oral Maxillofac Surg       Date:  2001-07       Impact factor: 1.895

8.  Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

Authors:  Marjan M Nezarati; Salim Aftimos
Journal:  Clin Dysmorphol       Date:  2007-01       Impact factor: 0.816

9.  Auriculo-condylar syndrome: additional patients.

Authors:  Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Siulan Vendramini; Nancy Mizue Kokitsu-Nakata
Journal:  Am J Med Genet       Date:  2002-10-01

Review 10.  Syndromes of the first and second pharyngeal arches: A review.

Authors:  Maria Rita Passos-Bueno; Camila C Ornelas; Roberto D Fanganiello
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

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  2 in total

1.  Mir24-2-5p suppresses the osteogenic differentiation with Gnai3 inhibition presenting a direct target via inactivating JNK-p38 MAPK signaling axis.

Authors:  Li Meng; Lichan Yuan; Jieli Ni; Mengru Fang; Shuyu Guo; Huayang Cai; Jinwei Qin; Qi Cai; Mengnan Zhang; Fang Hu; Junqing Ma; Yang Zhang
Journal:  Int J Biol Sci       Date:  2021-10-17       Impact factor: 6.580

2.  New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.

Authors:  Vanessa Luiza Romanelli Tavares; Sofia Ligia Guimarães-Ramos; Yan Zhou; Cibele Masotti; Suzana Ezquina; Danielle de Paula Moreira; Henk Buermans; Renato S Freitas; Johan T Den Dunnen; Stephen R F Twigg; Maria Rita Passos-Bueno
Journal:  J Med Genet       Date:  2021-11-08       Impact factor: 5.941

  2 in total

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