Literature DB >> 7473666

Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

J P Fryns.   

Abstract

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Year:  1995        PMID: 7473666      PMCID: PMC1051654          DOI: 10.1136/jmg.32.8.668

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


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  9 in total

1.  Short stature, mental retardation, eye anomalies, and cleft lip/palate.

Authors:  A Richieri-Costa; M L Guion-Almeida
Journal:  Am J Med Genet       Date:  1992-02-15

2.  Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.

Authors:  C P Bennett; D R Betts; M J Seller
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

3.  Proteus syndrome.

Authors:  R J Gorlin
Journal:  J Clin Dysmorphol       Date:  1984

Review 4.  A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Authors:  J Elliott; E L Maltby; B Reynolds
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

5.  Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?

Authors:  I Arroyo; M J García; C E Cimadevilla; V Carretero; E Bermejo; M L Martínez-Frías
Journal:  Am J Med Genet       Date:  1992-07-01

6.  Anophthalmia with cleft palate and micrognathia: a new syndrome?

Authors:  S R Phadke; A K Sharma; S S Agarwal
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

7.  An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.

Authors:  H M Kingston; P S Harper; P W Jones
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

8.  Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndrome.

Authors:  A S Teebi; Q A al-Saleh; M M Hassoon; T I Farag; S A al-Awadi
Journal:  Clin Genet       Date:  1989-09       Impact factor: 4.438

9.  Clefting syndrome with typical and atypical irido-retinochoroidal colobomatous defects.

Authors:  R K Tandon; J P Burke; I M Strachan
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1994 Mar-Apr       Impact factor: 1.402

  9 in total

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