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Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.
J Med Genet 1991; 28(11):795-800JM

Abstract

The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosum. Our observation supports the hypothesis that types I and III MOPD probably constitute a spectrum of one and the same entity and published data together with this report are consistent with autosomal recessive inheritance. The pathogenesis of this condition is as yet unknown, but its characteristics indicate a basic defect affecting cell proliferation and tissue differentiation.

Authors+Show Affiliations

Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1770539

Citation

Meinecke, P, and E Passarge. "Microcephalic Osteodysplastic Primordial Dwarfism Type I/III in Sibs." Journal of Medical Genetics, vol. 28, no. 11, 1991, pp. 795-800.
Meinecke P, Passarge E. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet. 1991;28(11):795-800.
Meinecke, P., & Passarge, E. (1991). Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. Journal of Medical Genetics, 28(11), pp. 795-800.
Meinecke P, Passarge E. Microcephalic Osteodysplastic Primordial Dwarfism Type I/III in Sibs. J Med Genet. 1991;28(11):795-800. PubMed PMID: 1770539.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. AU - Meinecke,P, AU - Passarge,E, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 795 EP - 800 JF - Journal of medical genetics JO - J. Med. Genet. VL - 28 IS - 11 N2 - The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosum. Our observation supports the hypothesis that types I and III MOPD probably constitute a spectrum of one and the same entity and published data together with this report are consistent with autosomal recessive inheritance. The pathogenesis of this condition is as yet unknown, but its characteristics indicate a basic defect affecting cell proliferation and tissue differentiation. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/1770539/Microcephalic_osteodysplastic_primordial_dwarfism_type_I/III_in_sibs_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=1770539 DB - PRIME DP - Unbound Medicine ER -