Literature DB >> 8834259

Congenital alacrima in a patient with G (Opitz Frias) syndrome.

M Dundar1, K Erkihç, F Demiryilmaz, M Küçükaydin, M Kendirci, H Okur, A Kazez.   

Abstract

Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.

Entities:  

Mesh:

Year:  1996        PMID: 8834259     DOI: 10.1007/bf02267083

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  12 in total

1.  Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome.

Authors:  J Christodoulou; A Bankier; P Loughnan
Journal:  Am J Med Genet       Date:  1990-11

2.  Central autonomic dysfunction with defective lacrimation; report of five cases.

Authors:  C M RILEY; R L DAY
Journal:  Pediatrics       Date:  1949-04       Impact factor: 7.124

3.  The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.

Authors:  M Cappa; P Borrelli; R Marini; G Neri
Journal:  Am J Med Genet       Date:  1987-10

4.  Congenital absence of the lacrimal gland.

Authors:  C G Keith; D W Boldt
Journal:  Am J Ophthalmol       Date:  1986-12-15       Impact factor: 5.258

5.  The G syndrome.

Authors:  J R Little; J M Opitz
Journal:  Am J Dis Child       Date:  1971-06

6.  The G syndrome of dysphagia, ocular hypertelorism and hypospadias.

Authors:  G B Côté; A Katsantoni; S Papadakou-Lagoyanni; C Costalos; T Timotheou; A Skordalakis; D Deligeorgis; S Pantelakis
Journal:  Clin Genet       Date:  1981-06       Impact factor: 4.438

7.  The G syndrome: a case report.

Authors:  C R Greenberg; D Schraufnagel
Journal:  Am J Med Genet       Date:  1979

8.  Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities.

Authors:  E Ehrich; G Aranoff; W G Johnson
Journal:  Am J Med Genet       Date:  1987-03

9.  The G and BBB syndromes: case presentations, genetics, and nosology.

Authors:  S J Funderburk; R Stewart
Journal:  Am J Med Genet       Date:  1978

10.  Phenotypic overlap of the BBB and G syndromes.

Authors:  J F Cordero; L B Holmes
Journal:  Am J Med Genet       Date:  1978
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.