Literature DB >> 7824361

The boneless neonate: a severe form of achondrogenesis type I.

H J Jaeger1, A Schmitz-Stolbrink, J Hulde, M Novak, K Roggenkamp, K Mathias.   

Abstract

We report a case of a severe form of achondrogenesis type I. Prenatal ultrasonography showed a micromelic fetus; bony structures could not be identified. Postnatal radiographs revealed some foci of ossification in the ossa ilia, the clavicles, the upper and the lower jaw and the base of the skull. The long bones, the vertebral column and the ribs were not visible. The diagnosis was established by histologic examination of the growth plates.

Mesh：

Year:  1994        PMID： 7824361     DOI： 10.1007/bf02012114

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  12 in total

1.  Letter: Proposed readjustment of eponyms for achondrogenesis.

Authors:  S S Yang; J Bernstein
Journal:  J Pediatr       Date:  1975-08       Impact factor: 4.406

2.  Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.

Authors:  M Shohat; D L Rimoin; H E Gruber; R S Lachman
Journal:  Pediatr Radiol       Date:  1991

3.  [Lethal achondrogenesis: a review of 56 cases (author's transl)].

Authors:  M J Schulte; W Lenz; M Vogel
Journal:  Klin Padiatr       Date:  1978-07       Impact factor: 1.349

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.  [Diagnosis of chondrodystrophic dwarfism in the newborn].

Authors:  P Maroteaux; M Lamy
Journal:  Arch Fr Pediatr       Date:  1968-03

6.  In utero sonographic diagnosis of achondrogenesis.

Authors:  L W Glenn; S S Teng
Journal:  J Clin Ultrasound       Date:  1985 Mar-Apr       Impact factor: 0.910

7.  Achondrogenesis type I: light and electron-microscopic studies.

Authors:  G Molz; M A Spycher
Journal:  Eur J Pediatr       Date:  1980-06       Impact factor: 3.183

8.  Achondrogenesis type I: ultrasound diagnosis in utero.

Authors:  B Benacerraf; R Osathanondh; F R Bieber
Journal:  J Clin Ultrasound       Date:  1984 Jul-Aug       Impact factor: 0.910

9.  Early second trimester sonographic diagnosis of achondrogenesis.

Authors:  D Graham; J Tracey; K Winn; V Corson; R C Sanders
Journal:  J Clin Ultrasound       Date:  1983-08       Impact factor: 0.910

10.  Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.

Authors:  D R Eyre; M P Upton; F D Shapiro; R H Wilkinson; G F Vawter
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025
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