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Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.
Am J Med Genet. 1989 Jun; 33(2):224-7.AJ

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.

Authors+Show Affiliations

Department of Medical Genetics, Adelaide Children's Hospital, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2764032

Citation

Haan, E A., et al. "Osteodysplastic Primordial Dwarfism: Report of a Further Case With Manifestations Similar to Those of Types I and III." American Journal of Medical Genetics, vol. 33, no. 2, 1989, pp. 224-7.
Haan EA, Furness ME, Knowles S, et al. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet. 1989;33(2):224-7.
Haan, E. A., Furness, M. E., Knowles, S., Morris, L. L., Scott, G., Svigos, J. M., & Vigneswaren, R. (1989). Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. American Journal of Medical Genetics, 33(2), 224-7.
Haan EA, et al. Osteodysplastic Primordial Dwarfism: Report of a Further Case With Manifestations Similar to Those of Types I and III. Am J Med Genet. 1989;33(2):224-7. PubMed PMID: 2764032.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. AU - Haan,E A, AU - Furness,M E, AU - Knowles,S, AU - Morris,L L, AU - Scott,G, AU - Svigos,J M, AU - Vigneswaren,R, PY - 1989/6/1/pubmed PY - 1989/6/1/medline PY - 1989/6/1/entrez SP - 224 EP - 7 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 33 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2764032/Osteodysplastic_primordial_dwarfism:_report_of_a_further_case_with_manifestations_similar_to_those_of_types_I_and_III_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=33&issue=2&spage=224 DB - PRIME DP - Unbound Medicine ER -