Achondroplasia Follow-up

  • Author: Shital Parikh, MD; Chief Editor: Dennis P Grogan, MD   more...
 
Updated: Feb 7, 2012
 

Complications

  • See Mortality/Morbidity.
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Prognosis

  • The standardized mortality ratio is increased for all age groups by a factor of 2.27 over that of the general population (see Mortality/Morbidity).
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Patient Education

  • An important resource for individuals with short stature is the Little People of America. This is a national organization that addresses the social, physical, and medical needs of its constituency. It holds annual regional and national conventions. Philosophically, these organizations emphasize the positive aspects of their members' abilities and lives rather than viewing the issue of short stature as a disability.
  • The Dwarf Athletic Association of America is a member of the US Olympic Committee that promotes athletic participation for individuals with short stature.
  • When addressing height issues in patients with short stature, the term "less than average" should be used.
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Contributor Information and Disclosures
Author

Shital Parikh, MD  Assistant Professor, Department of Pediatric Orthopaedic Surgery, Cincinnati Children's Hospital Medical Center

Shital Parikh, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, and Orthopaedic Research Society

Disclosure: Nothing to disclose.

Coauthor(s)

Preeti Batra, MBBS, MD  Staff Physician, Department of Radiology, VS Hospital, India

Disclosure: Nothing to disclose.

Specialty Editor Board

Mininder S Kocher, MD, MPH  Associate Professor of Orthopedic Surgery, Harvard Medical School/Harvard School of Public Health; Associate Director, Division of Sports Medicine, Department of Orthopedic Surgery, Children's Hospital Boston

Mininder S Kocher, MD, MPH is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association for the History of Medicine, American College of Sports Medicine, American Orthopaedic Society for Sports Medicine, Massachusetts Medical Society, and Pediatric Orthopaedic Society of North America

Disclosure: Smith & Nephew Endoscopy Consulting fee Consulting; EBI Biomet Consulting fee Consulting; OrthoPediatrics Consulting fee Consulting; Pivot Medical Stock Consulting; pediped Consulting fee Consulting; WB Saunders Royalty None; Fixes-4-Kids Consulting

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

George H Thompson, MD  Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children's Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society

Disclosure: OrthoPediatrics None Consulting; Journal of Pediatric Orthopaedics Salary Management position; SpineForm None Consulting; SICOT None Board membership

Dinesh Patel, MD, FACS  Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital

Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dennis P Grogan, MD  Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society

Disclosure: Nothing to disclose.

References

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Typical features of a person with achondroplastic dwarfism, including normal trunk with rhizomelic shortening and genu varum.
The characteristic skull seen in patients with achondroplasia, with frontal bossing, small foramen magnum, midface hypoplasia, and relative enlargement of the skull compared to the face.
The progressive narrowing of the coronal interpedicular distance in the lumbar spine in patients with achondroplasia. Note the characteristic shape of the pelvis with horizontal sacral position.
Thoracolumbar kyphosis with narrow lumbar spinal canal and concave posterior bodies in a 13-month-old child with achondroplasia.
Typical features of the lower limbs in a person with achondroplasia, including horizontal acetabular roofs, small sacrosciatic notches, genu varum and ankle varum with relative overgrowth of fibula, and inverted "V" shaped distal femoral physis.
MRI showing cervicomedullary compression at foramen magnum in a patient with achondroplasia.
 
 
 
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