Tags

Type your tag names separated by a space and hit enter

Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.
Am J Med Genet. 1998 Oct 30; 80(1):25-31.AJ

Abstract

We report on three further patients with microcephalic osteodysplastic dwarfism type II. All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation. They are disproportionately short statured due to short limbs. Characteristic skeletal abnormalities are small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, and triangular distal femoral epiphyses, as well as pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy V. At age 3 years, bilateral epiphyseolysis of the femoral heads occurred in case 1. Including our patients, 17 cases have been published so far. We review the clinical picture and the cause.

Links

Publisher Full Text

Authors+Show Affiliations

Majewski F
Institute of Human Genetics and Anthropology, Heinrich-Heine-University, Duesseldorf, Germany.
Goecke TO
No affiliation info available

MeSH

ChildChild, PreschoolDwarfismFaciesHumansInfantInfant, NewbornIntellectual DisabilityMaleMicrocephalyOsteochondrodysplasiasRadiography

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

9800908

Citation

Majewski, F, and T O. Goecke. "Microcephalic Osteodysplastic Primordial Dwarfism Type II: Report of Three Cases and Review." American Journal of Medical Genetics, vol. 80, no. 1, 1998, pp. 25-31.
Majewski F, Goecke TO. Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. Am J Med Genet. 1998;80(1):25-31.
Majewski, F., & Goecke, T. O. (1998). Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. American Journal of Medical Genetics, 80(1), 25-31.
Majewski F, Goecke TO. Microcephalic Osteodysplastic Primordial Dwarfism Type II: Report of Three Cases and Review. Am J Med Genet. 1998 Oct 30;80(1):25-31. PubMed PMID: 9800908.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. AU - Majewski,F, AU - Goecke,T O, PY - 1998/11/4/pubmed PY - 2000/6/20/medline PY - 1998/11/4/entrez SP - 25 EP - 31 JF - American journal of medical genetics JO - Am J Med Genet VL - 80 IS - 1 N2 - We report on three further patients with microcephalic osteodysplastic dwarfism type II. All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation. They are disproportionately short statured due to short limbs. Characteristic skeletal abnormalities are small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, and triangular distal femoral epiphyses, as well as pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy V. At age 3 years, bilateral epiphyseolysis of the femoral heads occurred in case 1. Including our patients, 17 cases have been published so far. We review the clinical picture and the cause. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9800908/Microcephalic_osteodysplastic_primordial_dwarfism_type_II:_report_of_three_cases_and_review_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=80&issue=1&spage=25 DB - PRIME DP - Unbound Medicine ER -