Literature DB >> 6469245

A case of achondrogenesis type I.

I Bökesoy, E Aydin, S Gazilerli.   

Abstract

A case of achondrogenesis type I was observed in a stillborn infant of consanguineous parents. Additional abnormalities included cleft palate, corneal clouding, ear deformities, aplastic testes, and anal atresia. Radiological and histological findings are evaluated for the differential diagnosis.

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Year:  1984        PMID： 6469245     DOI： 10.1007/bf00291368

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies.

Authors:  A Ornoy; E Sekeles; P Smith; A Simkin; G Kohn
Journal:  Am J Pathol       Date:  1976-01       Impact factor: 4.307

2.  Achondrogenesis type I. A familial subvariant?

Authors:  I Lauder; H A Ellis; T Ashcroft; A Burridge
Journal:  Arch Dis Child       Date:  1976-07       Impact factor: 3.791

3.  Prenatal diagnosis of achondrogenesis.

Authors:  M S Golbus; B D Hall; R A Filly; L B Poskanzer
Journal:  J Pediatr       Date:  1977-09       Impact factor: 4.406

4.  Two types of heritable lethal achondrogenesis.

Authors:  S S Yang; A J Brough; G S Garewal; J Bernstein
Journal:  J Pediatr       Date:  1974-12       Impact factor: 4.406

5.  Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.

Authors:  H R Wiedemann; W Remagen; H A Hienz; R J Gorlin; P Maroteaux
Journal:  Z Kinderheilkd       Date:  1974

6.  Achondrogenesis.

Authors:  R B Jiminez; L B Holmes; J S Kaiser; A L Weber
Journal:  Pediatrics       Date:  1973-06       Impact factor: 7.124

7.  Lethal forms of chondrodysplastic dwarfism.

Authors:  J P Curran; B A Sigmon; J M Opitz
Journal:  Pediatrics       Date:  1974-01       Impact factor: 7.124

8.  Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.

Authors:  R M Saldino
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1971-05

9.  Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects.

Authors:  G Camera; P Mastroiacovo
Journal:  Prog Clin Biol Res       Date:  1982
  9 in total

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