Literature DB >> 1815189

Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features.

T E Herman1, N J Mendelsohn, S B Dowton, W H McAlister.   

Abstract

Osteodysplastic primordial dwarfism, type II manifests typical skeletal features which have not previously been described in the radiographic literature. We present an infant with characteristic findings and discuss related conditions, especially the Seckel syndrome.

Entities:  

Mesh：

Year:  1991        PMID： 1815189     DOI： 10.1007/BF02012613

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


  10 in total

1.  Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.

Authors:  L Van Maldergem; Y Gillerot; M Godhaird; E Nemec; L Koulischer
Journal:  Clin Genet       Date:  1990-11       Impact factor: 4.438

2.  Microcephalic osteodysplastic dwarfism (type II-like) in siblings.

Authors:  A Verloes; L Lambrechts; J Senterre; C Lambotte
Journal:  Clin Genet       Date:  1987-08       Impact factor: 4.438

3.  Seckel's bird-headed dwarfism.

Authors:  V A McKusick; M Mahloudji; M H Abbott; R Lindenberg; D Kepas
Journal:  N Engl J Med       Date:  1967-08-10       Impact factor: 91.245

4.  Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.

Authors:  F Majewski; M Stoeckenius; H Kemperdick
Journal:  Am J Med Genet       Date:  1982-05

Review 5.  Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.

Authors:  F Majewski; T Goecke
Journal:  Am J Med Genet       Date:  1982-05

6.  A new case of the osteodysplastic primordial dwarfism type II.

Authors:  P J Willems; C Rouwé; G P Smit
Journal:  Am J Med Genet       Date:  1987-04

7.  Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism).

Authors:  A K Poznanski; G Iannaccone; A M Pasquino; B Boscherini
Journal:  Pediatr Radiol       Date:  1983

8.  Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.

Authors:  R M Winter; J Wigglesworth; B N Harding
Journal:  Am J Med Genet       Date:  1985-07

9.  Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.

Authors:  F Majewski; M Ranke; A Schinzel
Journal:  Am J Med Genet       Date:  1982-05

10.  [Congenital dwarfisms with dysmorphism. 1. Congenital dwarfism with craniofacial dysmorphism and body asymmetry (Silver-Russel type)].

Authors:  C Anoussakis; T Karpathios; N Zervos; D Liakakos
Journal:  Pediatrie       Date:  1974 Apr-May
  10 in total
  4 in total

1.  Cephalo-skeletal dysplasia and microcephalic osteodysplastic primordial dwarfism.

Authors:  H Taybi
Journal:  Pediatr Radiol       Date:  1992

2.  Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.

Authors:  S Spranger; G Tariverdian; F K Albert; D Sontheimer; J Zöller; M Weber; J Tröger
Journal:  Eur J Pediatr       Date:  1996-09       Impact factor: 3.183

Review 3.  Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.

Authors:  Christine Sam; Fei-Feng Li; Shu-Lin Liu
Journal:  Metab Brain Dis       Date:  2015-04-21       Impact factor: 3.584

4.  Ocular characteristics in a variant microcephalic primordial dwarfism type II.

Authors:  Wan-Ju Chen; Fu-Chin Huang; Min-Hsiu Shih
Journal:  BMC Pediatr       Date:  2019-09-11       Impact factor: 2.125
  4 in total

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