Human syndromes with congenital patellar anomalies and the underlying gene defects

Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso‐ventral patterning, cartilage and bon...

Full description

Saved in:
Bibliographic Details
Published in:Clinical genetics 2005-10, Vol.68 (4), p.302-319
Main Authors: Bongers, EMHF, Van Kampen, A, Van Bokhoven, H, Knoers, NVAM
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Body Patterning - physiology
Bone Diseases, Developmental - genetics
Female
General aspects. Genetic counseling
Genotype
Humans
Leg - embryology
Limb Deformities, Congenital - genetics
limb development
LMX1B
Male
Medical genetics
Medical sciences
Patella - abnormalities
patellar aplasia/hypoplasia
Phenotype
RECQL4
skeletal malformation syndromes
TBX4
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Genetic disorders characterized by congenital patellar aplasia or hypoplasia belong to a clinically diverse and genetically heterogeneous group of lower limb malformations. Patella development involves different molecular and cellular mechanisms regulating dorso‐ventral patterning, cartilage and bone formation along endochondral ossification pathways, and growth. Several human genes that are important for patella development have been uncovered by the study of human limb malformation syndromes, yet causative genes for many more such disorders await to be identified and their complex interactions in the developmental pathways deciphered. Mutant animal models of congenital patellar aplasia or hypoplasia are certainly instrumental to create more insight into this aspect of limb development. Moreover, investigation of the complete phenotype of human syndromes and animal models may reveal novel insights into the pleiotropic roles of the responsible genes in the normal developmental of other organ systems. In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier–Gorlin syndrome, RAPADILINO syndrome, and genitopatellar syndrome.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2005.00508.x