Small patella syndrome: New clinical and molecular insights into a consistent phenotype

Clin Genet. 2017 Dec;92(6):676-678. doi: 10.1111/cge.13103.

Authors

C Vanlerberghe^{1

2}, A-S Jourdain^{2

3}, A Dieux¹, A Toutain⁴, B Callewaert⁵, S Dupuis-Girod⁶, S Unger⁷, M Wright⁸, B Isidor⁹, J Ghoumid^{1

2}, F Petit^{1

2}, N Boutry^{2

10}, F Escande^{2

3}, S Manouvrier-Hanu^{1

2}

Affiliations

¹ Department of Clinical Genetics, CHU Lille, France.
² Université Lille, EA7364 RADEME, Lille, France.
³ Department of Molecular genetics, CHU Lille, France.
⁴ Department of Genetics, CHU Tours, France.
⁵ Department of Clinical Genetics, UZ Gent, Belgium.
⁶ Department of Clinical Genetics, Groupement Hospitalier Est, Bron, France.
⁷ Department of Genetic Medicine, CHU Vaudois, Lausanne, Switzerland.
⁸ Institute of Genetic Medicine, International Centre for Life, Newcastle, UK.
⁹ Department of Clinical Genetics, Hôpital Mère et Enfant, CHU Nantes, France.
¹⁰ Department of Pediatric Radiology, CHU Lille, France.

PMID: 29120062
DOI: 10.1111/cge.13103

No abstract available

Publication types

Letter

MeSH terms

Adolescent
Adult
Bone Diseases, Developmental / complications
Bone Diseases, Developmental / epidemiology
Bone Diseases, Developmental / genetics*
Bone Diseases, Developmental / physiopathology
Child
Child, Preschool
Female
Hip / abnormalities*
Hip / physiopathology
Hip Dislocation, Congenital / complications
Hip Dislocation, Congenital / epidemiology
Hip Dislocation, Congenital / genetics*
Hip Dislocation, Congenital / physiopathology
Humans
Ischium / abnormalities*
Ischium / physiopathology
Male
Middle Aged
Mutation
Patella / abnormalities*
Patella / physiopathology
Pedigree
Phenotype
T-Box Domain Proteins / genetics*
Young Adult

Substances

T-Box Domain Proteins
TBX4 protein, human

Supplementary concepts

Ischiopatellar dysplasia