Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

Literature DB >> 2325105

Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

Abstract

We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.

Entities: Disease Species

Mesh：

Year: 1990 PMID： 2325105 PMCID： PMC1017028 DOI： 10.1136/jmg.27.4.252

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

7 in total

1. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Authors: V A MCKUSICK; J A EGELAND; R ELDRIDGE; D E KRUSEN
Journal: Bull Johns Hopkins Hosp Date: 1964-10

2. Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome.

Authors: B I IVEMARK; V OLDFELT; R ZETTERSTROM
Journal: Acta Paediatr Date: 1959-01 Impact factor: 2.299

3. [Asphyxiating thoracic dystrophy with familial characteristics].

Authors: M JEUNE; C BERAUD; R CARRON
Journal: Arch Fr Pediatr Date: 1955

4. Renal dysplasia and asplenia in two sibs.

Authors: M D Crawfurd
Journal: Clin Genet Date: 1978-12 Impact factor: 4.438

5. Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.

Authors: J Bernstein; M Chandra; J Creswell; E Kahn; N N Malouf; M McVicar; A G Weinberg; R E Wybel
Journal: Am J Med Genet Date: 1987-02

6. Necropsy findings in neonatal asphyxiating thoracic dystrophy.

Authors: S B Turkel; E J Diehl; J A Richmond
Journal: J Med Genet Date: 1985-04 Impact factor: 6.318

7. The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome.

Authors: J Bernstein; A J Brough; A J McAdams
Journal: Birth Defects Orig Artic Ser Date: 1974

7 in total

9 in total

1. Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure.

Authors: T J Neuhaus; F Sennhauser; J Briner; B Van Damme; E P Leumann
Journal: Eur J Pediatr Date: 1996-09 Impact factor: 3.183

2. Loss of Anks6 leads to YAP deficiency and liver abnormalities.

Authors: Merlin Airik; Markus Schüler; Blake McCourt; Anna-Carina Weiss; Nathan Herdman; Timo H Lüdtke; Eugen Widmeier; Donna B Stolz; Kari N Nejak-Bowen; Dean Yimlamai; Yijen L Wu; Andreas Kispert; Rannar Airik; Friedhelm Hildebrandt
Journal: Hum Mol Genet Date: 2020-11-04 Impact factor: 6.150

9. Few Fixed Variants between Trophic Specialist Pupfish Species Reveal Candidate Cis-Regulatory Alleles Underlying Rapid Craniofacial Divergence.

Authors: Joseph A McGirr; Christopher H Martin
Journal: Mol Biol Evol Date: 2021-01-23 Impact factor: 16.240

9 in total

Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

1. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

2. Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome.

3. [Asphyxiating thoracic dystrophy with familial characteristics].

4. Renal dysplasia and asplenia in two sibs.

5. Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.

6. Necropsy findings in neonatal asphyxiating thoracic dystrophy.

7. The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome.

1. Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure.

2. Loss of Anks6 leads to YAP deficiency and liver abnormalities.

3. Genetic heterogeneity of Meckel syndrome.

4. Ellis van Creveld syndrome with unusual association of essential infantile esotropia.

Review 5. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.

Review 6. Ciliopathies: an expanding disease spectrum.

7. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

8. Ellis-Van Creveld syndrome in siblings: A rare case report.

9. Few Fixed Variants between Trophic Specialist Pupfish Species Reveal Candidate Cis-Regulatory Alleles Underlying Rapid Craniofacial Divergence.