Literature DB >> 6660245

Homozygous achondroplasia with survival beyond infancy.

R M Pauli, M M Conroy, L O Langer, D G McLone, T Naidich, R Franciosi, I M Ratner, S C Copps.   

Abstract

Homozygous achondroplasia has been thought to be uniformly lethal in the neonatal period. We describe three children, born to achondroplastic parents, who were homozygous for this disorder but who survived beyond early infancy. Two died suddenly at 37 and 33 mo; the third survives at 29 wk. At least in some instances aggressive treatment may allow others with this condition to survive with a reasonable quality of life.

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Year:  1983        PMID: 6660245     DOI: 10.1002/ajmg.1320160404

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  12 in total

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

Authors:  I D Young; N R Ruggins; J M Somers; J M Zuccollo; N Rutter
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

Review 2.  Skeletal dysplasias.

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

3.  Foramen magnum stenosis in homozygous achondroplasia.

Authors:  J T Hecht; W A Horton; I J Butler; W D Goldie; M E Miner; R Shannon; R M Pauli
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183

Review 4.  The molecular basis of genetic dominance.

Authors:  A O Wilkie
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

5.  A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.

Authors:  Dau-Ming Niu; Betau Hwang; Han-Wei Hwang; Nana H Wang; Jer-Yuarn Wu; Pi-Chang Lee; Jen-Chung Chien; Ru-Chi Shieh; Yuan-Tsong Chen
Journal:  J Med Genet       Date:  2006-05-17       Impact factor: 6.318

6.  Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

Authors:  C G Woods; J G Rogers; V Mayne
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

Review 7.  Achondroplasia: a comprehensive clinical review.

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

8.  Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Authors:  G A Bellus; T W Hefferon; R I Ortiz de Luna; J T Hecht; W A Horton; M Machado; I Kaitila; I McIntosh; C A Francomano
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

9.  Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia.

Authors:  R M Pauli; V K Horton; L P Glinski; C A Reiser
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

10.  Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.

Authors:  Yi-Ching Lee; I-Wen Song; Ya-Ju Pai; Sheng-De Chen; Yuan-Tsong Chen
Journal:  Sci Rep       Date:  2017-02-23       Impact factor: 4.379

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