Literature DB >> 4950922

Variability versus "incidental findings" in the first and second branchial arch syndrome: unilateral variants with anophthalmia.

M M Cohen.   

Abstract

Four cases of hemifacial microsomia with unilateral anophthalmia are presented and various nosologic problems in the branchial arch dysplasias are discussed. Hemifacial microsomia with unilateral anophthalmia may or may not represent a formal genesis syndrome and nosologic entity different from other types of hemifacial microsomia. The disorder is not in reality a branchial arch dysplasia, but rather a complex dysmorphogenetic syndrome.

Entities:  

Mesh：

Year:  1971        PMID： 4950922

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


  9 in total

1.  45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships.

Authors:  Gareth Baynam; Jack Goldblatt
Journal:  J Maxillofac Oral Surg       Date:  2009-11-21

Review 2.  Oculoauriculovertebral spectrum and cerebral anomalies.

Authors:  C T Schrander-Stumpel; C E de Die-Smulders; R C Hennekam; J P Fryns; P X Bouckaert; O F Brouwer; J J da Costa; E J Lommen; P D Maaswinkel-Mooy
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

3.  Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.

Authors:  P H Jongbloet
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

4.  'Inside-out', back-to-front: a model for clinical population genetic screening.

Authors:  D Shickle; I Harvey
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

5.  Genetic aspects of hemifacial microsomia.

Authors:  U Burck
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Encephalocele (cerebellocele) in the Goldenhar-Gorlin syndrome.

Authors:  S Aleksic; G Budzilovich; M A Greco; F Epstein; I Feigin; J Pearson
Journal:  Eur J Pediatr       Date:  1983-04       Impact factor: 3.183

7.  Management of Incidental Findings in the Era of Next-generation Sequencing.

Authors:  Heather L Blackburn; Bradley Schroeder; Clesson Turner; Craig D Shriver; Darrell L Ellsworth; Rachel E Ellsworth
Journal:  Curr Genomics       Date:  2015-06       Impact factor: 2.236

8.  Clinical approach to a suspected case of first branchial arch syndrome.

Authors:  Noboru Yamaguchi; Shiho Nakamura; Haruyoshi Yamaza; Soichiro Nishigaki; Keiji Masuda; Ken-Ichi Yanagita; Kazuaki Nonaka
Journal:  Case Rep Med       Date:  2014-01-12

9.  Asymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis.

Authors:  Lika'a Fasih Y Al-Kzayer; Shamil Naji Sarsam; Nagham Younus Alhur; Tingting Liu; Yozo Nakazawa
Journal:  Oncotarget       Date:  2017-12-20
  9 in total

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