نتایج جستجو برای: hemimelia

تعداد نتایج: 143  

Journal: :Development 1997
V Knezevic R De Santo K Schughart U Huffstadt C Chiang K A Mahon S Mackem

Several 5' members of the Hoxd cluster are expressed in nested posterior-distal domains of the limb bud suggesting a role in regulating anteroposterior pattern of skeletal elements. While loss-of-function mutants have demonstrated a regulatory role for these genes in the developing limb, extensive functional overlaps between various different Hox genes has hampered elucidation of the roles play...

2006
Johann Lang Anaïs Güdel

INTRODUCTION The role of diagnostic imaging in congenital and inherited disorders depends on many factors. In the following article the focus is on the goals, possibilities and limitations of diagnostic imaging in the context of breeding programs. The phenotype of an inherited disorder depends mainly on the genetic trait and whether the changes are present at birth or develop later in life. Onl...

Journal: :The Journal of bone and joint surgery. British volume 1974
M A Leonard

Tarsal coalition is not a modern phenomenon. Archaeological findings have demonstrated this anomaly in a Mayan civilisation in Guatemala (Harris 1965) and in a pre-Columbian Indian civilisation in Ohio (Heiple and Lovejoy 1969), both dated around 900-950 A.D. Buffon (1769) was probably the first to recognise the occurrence of tarsal coalition, although the undated specimen in the Museum of the ...

2016
Pierre Lascombes Hakan Omeroglu

Last year’s 34th Annual Meeting of the European Paediatric Orthopaedic Society (EPOS) was held in Marseille, France, on 15–18 April. A comprehensive pre-meeting course held on 15 April was dedicated to many complex aspects of long-bone deformity correction and bonelengthening procedures. The present issue of the Journal of Children’s Orthopaedics collates manuscripts of the presentations made a...

2013
Nasir Muzaffar

The term “limb deficiency” incorporates absence and/or size reduction of any of the 120 human limb bones, with around 205 identified nosologic entities. Of these, the GollopWolfgang Complex (GWC) is a rare abnormality comprising absence of tibia and ipsilateral forked femur with ectrodactyly. There is scarcity of literature implicating antiepileptic drugs in the etiology of GWC but the teratoge...

2004
Paul W Buss

Isolated limb reduction defects occur in approximately 1 in 2000 live births within which central ray anomalies are an important subgroup. Most affected persons have mild or moderate functional impairment. Considerable psychological morbidity may also occur. While there have been major strides forwards in our understanding of vertebrate limb development, the mechanisms responsible for central r...

2004
Paul W Buss

Isolated limb reduction defects occur in approximately 1 in 2000 live births within which central ray anomalies are an important subgroup. Most affected persons have mild or moderate functional impairment. Considerable psychological morbidity may also occur. While there have been major strides forwards in our understanding of vertebrate limb development, the mechanisms responsible for central r...

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