Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

Journal of Children's Orthopaedics
Patrick RileyMartin S Dicintio

Abstract

Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum. Immunodeficiency is of concern in most cases. Although patients exhibit orthopaedic problems, the orthopaedic literature on CHH patients is scant at best. The objective of this study was to characterize the orthopaedic manifestations of CHH based on the authors' unique access to the largest collection of CHH patients ever reported. The authors examined charts and/or radiographs in 135 cases of CHH. We analyzed the orthopaedic manifestations to better characterize and further understand the orthopaedic surgeon's role in this disorder. In addition to describing the clinical characteristics, we report on our surgical experience in caring for CHH patients. Genu varum, with or without knee pain, is the most common reason a patient with CHH will seek orthopaedic consultation. Of the cases reviewed, 32 patients had undergone surger...Continue Reading

References

Aug 1, 1977·Postgraduate Medical Journal·D C SiggersD A Williamson
Feb 1, 1992·Pediatric Research·O MäkitieI Kaitila
Sep 1, 1989·American Journal of Medical Genetics·R Hong
Sep 1, 1988·Archives of Dermatology·T E Brennan, R W Pearson
Jul 1, 1986·Clinical Immunology and Immunopathology·S H Polmar, G F Pierce
Nov 1, 1973·Archives of Disease in Childhood·C B Boothby, B D Bower
Jan 1, 1970·Clinical Pediatrics·R B LowryP H Padwick
Jan 1, 1970·Dermatologica·R L Coupe, R B Lowry
Jan 1, 1981·American Journal of Medical Genetics·R E HarrisM E Hodes
Feb 1, 1995·Human Genetics·T SulisaloP Sistonen
Jan 1, 1995·Journal of Medical Genetics·O MäkitieI Kaitila
Dec 1, 1995·Acta Paediatrica Japonica; Overseas Edition·H KawasakiY Kobayashi
Nov 1, 1996·Fetal Diagnosis and Therapy·J S DunganL P Shulman
Aug 1, 1997·Scandinavian Journal of Immunology·R KooijmanB J Zegers
Nov 11, 1998·European Journal of Pediatrics·O MäkitieE Savilahti
Mar 4, 1999·The Journal of Pediatrics·O MäkitieI Kaitila
Sep 24, 1999·American Journal of Medical Genetics·R B Glass, C J Tifft
Feb 26, 2000·The Journal of Clinical Endocrinology and Metabolism·O MäkitieM A Siimes
Dec 22, 2000·Archives of Disease in Childhood·O MäkitieI Kaitila
Jun 8, 2001·The Journal of Pediatrics·O MäkitieR Rintala
Jul 31, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Maaret RidanpääIlkka Kaitila
Feb 13, 2004·Journal of Pediatric Endocrinology & Metabolism : JPEM·G BoccaB J Otten
Aug 13, 2005·American Journal of Medical Genetics. Part a·Marc S WilliamsOuti Mäkitie
Oct 29, 2005·Human Molecular Genetics·Pia HermannsBrendan Lee
Jan 24, 2006·Journal of the American Academy of Dermatology·Jodi M Eisner, Mark Russell
Jul 14, 2006·American Journal of Medical Genetics. Part a·Pia HermannsJules G Leroy
Oct 17, 2006·Bone Marrow Transplantation·R GuggenheimC M Roifman
May 9, 2007·American Journal of Medical Genetics. Part a·Yasemin AlanayRalph S Lachman
Jul 17, 2007·Mayo Clinic Proceedings·Damir Matesic, John B Hagan
Oct 17, 2007·American Journal of Medical Genetics. Part a·Eiji NakashimaDavid Schlessinger
Jun 11, 2008·Journal of Pediatric Endocrinology & Metabolism : JPEM·Louise S ConwellAndreas Zankl
Jul 16, 2008·American Journal of Medical Genetics. Part a·Alireza Baradaran-HeraviIlkka Kaitila

❮ Previous
Next ❯

Citations

Aug 10, 2017·The British Journal of Dermatology·M EttingerS Schreml
Jun 27, 2019·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Xianding SunLin Chen
Nov 20, 2016·American Journal of Medical Genetics. Part a·Inma Castilla-CortázarMartha I Elizondo

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.