Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother's offspring

International Journal of Paleopathology
Antony ColomboAndrea Waters-Rist

Abstract

A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. This mutation induces dysfunction of the growth cartilage, leading to abnormalities in the development of trabecular bone. Because the mutation is autosomal dominant, these perinates have a 50% risk of having been affected. This study determines whether trabecular bone microarchitecture (TBMA) analysis is useful for detecting genetic dwarfism. Proximal metaphyses of humeri were μCT-scanned with a resolution of 7-12 μm. Three volumes of interest were segmented from each bone with TIVMI© software. The TBMA was quantified in BoneJ© using six parameters on which a multivariate analysis was then performed. Two of the Middenbeemster perinates show a quantitatively different TBMA organization. These results and the family's medical history suggest a diagnosis of genetic dwarfism for this two perinates. This study provides evidence to support the efficacy of μCT for diagnosing early-stage bone disease.

References

Apr 1, 1988·American Journal of Physical Anthropology·D W FrayerM Mussi
Dec 1, 1987·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·A M ParfittR R Recker
Aug 1, 1986·Journal of Medical Genetics·I M OrioliJ G Barbosa-Neto
Aug 1, 1993·American Journal of Physical Anthropology·C F SpoorG A Macho
Jun 16, 2004·American Journal of Physical Anthropology·Vincenzo Formicola, Alexandra P Buzhilova
Dec 29, 2005·American Journal of Medical Genetics. Part a·Chahira Kozma
Sep 12, 2006·Journal of Human Evolution·Timothy M Ryan, Gail E Krovitz
Jul 17, 2007·Lancet·William A HortonJacqueline T Hecht
Dec 31, 2008·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Salman KirmaniSundeep Khosla
Mar 27, 2009·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·M BurrowsH McKay
Jun 23, 2009·Journal of Anatomy·Craig A Cunningham, Sue M Black
Mar 5, 2010·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Qingju WangEgo Seeman
Sep 8, 2010·Bone·Michael DoubeSandra J Shefelbine
Oct 28, 2010·American Journal of Physical Anthropology·Richard A LazenbyJean-Jacques Hublin
Jun 16, 2011·American Journal of Medical Genetics. Part a·Chahira KozmaRalph Lachman
Mar 1, 2012·Journal of Anatomy·Dimitris Reissis, Richard L Abel
Dec 1, 2012·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·David W DempsterA Michael Parfitt
Nov 4, 2015·Frontiers in Endocrinology·Phil L SalmonMichael Doube
Dec 1, 2013·International Journal of Paleopathology·Andrea L Waters-Rist, Menno L P Hoogland

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