Literature DB >> 3236354

Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

L I al-Gazali1, D Donnai, R F Mueller.   

Abstract

Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with Hirschsprung's disease, hypoplastic nails, and similar minor dysmorphic features. We consider that they represent a distinct autosomal recessive syndrome.

Entities:  

Mesh：

Year:  1988        PMID： 3236354      PMCID： PMC1051580          DOI： 10.1136/jmg.25.11.758

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


  8 in total

1.  A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.

Authors:  J P Fryns; F Moerman; P Goddeeris; C Bossuyt; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  The London Dysmorphology Database.

Authors:  R M Winter; M Baraitser
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

3.  Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

Authors:  J P Fryns
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

4.  Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome.

Authors:  R A Rüdiger; W Schmidt; D A Loose; E Passarge
Journal:  J Pediatr       Date:  1971-12       Impact factor: 4.406

5.  A case of Fryns syndrome.

Authors:  I D Young; K Simpson; R M Winter
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

6.  Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.

Authors:  M Lubinsky; C Severn; J M Rapoport
Journal:  Am J Med Genet       Date:  1983-03

7.  Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.

Authors:  P Goddeeris; J P Fryns; H van den Berghe
Journal:  J Genet Hum       Date:  1980-03

8.  The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.

Authors:  P Meinecke; J P Fryns
Journal:  Clin Genet       Date:  1985-12       Impact factor: 4.438
  8 in total
  2 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.