Literature DB >> 3591840

Achondroplasia-hypochondroplasia complex.

A Sommer, T Young-Wee, T Frye.   

Abstract

We report on a 14-year-old girl with the achondroplasia-hypochondroplasia complex. This patient has been reported previously [McKusick et al, 1973], and we offer an update on her condition. The patient has clinical features different from both achondroplasia and hypochondroplasia and is mentally retarded. Radiological changes, which have occurred over 14 years, are included.

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Mesh：

Year:  1987        PMID： 3591840     DOI： 10.1002/ajmg.1320260426

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


  5 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.  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

4.  Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis.

Authors:  Renate Marquis-Nicholson; Salim Aftimos; Donald R Love
Journal:  Sultan Qaboos Univ Med J       Date:  2013-02-27

5.  Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.

Authors:  Tadashi Nagata; Masaki Matsushita; Kenichi Mishima; Yasunari Kamiya; Kohji Kato; Miho Toyama; Tomoo Ogi; Naoki Ishiguro; Hiroshi Kitoh
Journal:  Mol Genet Genomic Med       Date:  2020-01-23       Impact factor: 2.183
  5 in total

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