Literature DB >> 9783717

Triophthalmia and facial clefting: a case report.

S M Tayel1, M A Sabry, N A Kader, S Farah, S A Al-Awadi, T I Farag.   

Abstract

We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.

Entities:  

Mesh：

Year:  1998        PMID： 9783717      PMCID： PMC1051469          DOI： 10.1136/jmg.35.10.875

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


  17 in total

1.  The inheritance and expression of disorganization, an unusual mutation in the mouse.

Authors:  K P HUMMEL
Journal:  J Exp Zool       Date:  1958-04

2.  Disorganisation: a possible cause of apparent conjoint twinning.

Authors:  M A Petzel; R P Erickson
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

Review 3.  Retinoic acid. A key molecule for eye and photoreceptor development.

Authors:  G A Hyatt; J E Dowling
Journal:  Invest Ophthalmol Vis Sci       Date:  1997-07       Impact factor: 4.799

Review 4.  Current views on eye development.

Authors:  G Oliver; P Gruss
Journal:  Trends Neurosci       Date:  1997-09       Impact factor: 13.837

5.  Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

Authors:  M A Sabry; Q al-Saleh; R al-Saw'an; S A al-Awadi; T I Farag
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

Review 6.  Perspectives on craniofacial asymmetry. II. Asymmetric embryopathies.

Authors:  M M Cohen
Journal:  Int J Oral Maxillofac Surg       Date:  1995-02       Impact factor: 2.789

7.  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

Review 8.  A possible human homologue for the mouse mutant disorganisation.

Authors:  R M Winter; D Donnai
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

9.  Retinoic acid-induced duplication of the zebrafish retina.

Authors:  G A Hyatt; E A Schmitt; N R Marsh-Armstrong; J E Dowling
Journal:  Proc Natl Acad Sci U S A       Date:  1992-09-01       Impact factor: 11.205

10.  Human malformations similar to those in the mouse mutation disorganization (Ds).

Authors:  N H Robin; O O Adewale; D McDonald-McGinn; J H Nadeau; E H Zackai; M Bućan
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132
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