Literature DB >> 3591824

A new case of the osteodysplastic primordial dwarfism type II.

P J Willems, C Rouwé, G P Smit.   

Abstract

We describe a girl with extreme growth retardation of prenatal onset, short limbs, and somewhat unusual facial appearance. She represents the 6th patient with osteodysplastic primordial dwarfism type II. The distant consanguinity of the parents of this patient suggests possible autosomal recessive inheritance.

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Year:  1987        PMID: 3591824     DOI: 10.1002/ajmg.1320260408

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


  3 in total

1.  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

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

Authors:  T E Herman; N J Mendelsohn; S B Dowton; W H McAlister
Journal:  Pediatr Radiol       Date:  1991

3.  A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.

Authors:  Harry Pachajoa; Felipe Ruiz-Botero; Carolina Isaza
Journal:  J Med Case Rep       Date:  2014-06-13
  3 in total

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