Literature DB >> 1453438

Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

I D Young1, N R Ruggins, J M Somers, J M Zuccollo, N Rutter.   

Abstract

A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.

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Year:  1992        PMID： 1453438      PMCID： PMC1016183          DOI： 10.1136/jmg.29.11.831

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


  10 in total

1.  Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

Authors:  V A McKusick; T E Kelly; J P Dorst
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

2.  A new estimate of the achondroplasia mutation rate.

Authors:  R J Gardner
Journal:  Clin Genet       Date:  1977-01       Impact factor: 4.438

3.  Homozygous achondroplasia with survival beyond infancy.

Authors:  R M Pauli; M M Conroy; L O Langer; D G McLone; T Naidich; R Franciosi; I M Ratner; S C Copps
Journal:  Am J Med Genet       Date:  1983-12

4.  Dominance and homozygosity in man.

Authors:  R M Pauli
Journal:  Am J Med Genet       Date:  1983-12

5.  Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.

Authors:  D Ogilvie; P Wordsworth; E Thompson; B Sykes
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

6.  Achondroplasia-hypochondroplasia complex.

Authors:  A Sommer; T Young-Wee; T Frye
Journal:  Am J Med Genet       Date:  1987-04

7.  Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients.

Authors:  P E Mullis; M S Patel; P M Brickell; P C Hindmarsh; C G Brook
Journal:  Clin Endocrinol (Oxf)       Date:  1991-04       Impact factor: 3.478

8.  Achondroplasia is not caused by mutation in the gene for type II collagen.

Authors:  C A Francomano; R E Pyeritz
Journal:  Am J Med Genet       Date:  1988-04

9.  Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

Authors:  L W Murray; J Bautista; P L James; D L Rimoin
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

10.  Two clinical variants of spondylo-epiphysial dysplasia congenita.

Authors:  R Wynne-Davies; C Hall
Journal:  J Bone Joint Surg Br       Date:  1982
  10 in total
  3 in total

Review 1.  Skeletal dysplasias.

Authors:  Deborah Krakow
Journal:  Clin Perinatol       Date:  2015-04-08       Impact factor: 3.430

Review 2.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

3.  Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.

Authors:  Irene J Chang; Angela Sun; Maryse L Bouchard; Shawn E Kamps; Susan Hale; Stephen Done; Michael J Goldberg; Ian A Glass
Journal:  Am J Med Genet A       Date:  2018-07       Impact factor: 2.802
  3 in total

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