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
MeSH
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 -