Osteodysplastic primordial dwarfism: Report of a further case with manifestations similar to those of types I and III
- 5 June 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 33 (2) , 224-227
- https://doi.org/10.1002/ajmg.1320330216
Abstract
We describe a male infant with microcephalic osteodysplastic primordial dwarfism. The clinical and radiological manifestations most closely resemble those of the patient described by Winter et al. to have manifestations overlapping with both osteodysplastic primordial dwarfism types I and III. The classification of the patient within the spectrum of osteodysplastic primordial dwarfism is discussed and the distinctive neuropathology documented.Keywords
This publication has 6 references indexed in Scilit:
- Microcephalic osteodysplastic dwarfism (Type ll‐like) in siblingsClinical Genetics, 1987
- Osteodysplastic primordial dwarfism: Report of a further patient with manifestations similar to those seen in patients with types I and IIIAmerican Journal of Medical Genetics, 1985
- Studies of microcephalic primordial dwarfism I: Approach to a delineation of the seckel syndromeAmerican Journal of Medical Genetics, 1982
- Studies of microcephalic primordial dwarfism III: An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles—osteodysplastic primordial dwarfism type IIIAmerican Journal of Medical Genetics, 1982
- Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfismAmerican Journal of Medical Genetics, 1982
- Congenital Familial Dwarfism with Cephaloskeletal DysplasiaRadiology, 1967