Diastrophic Dysplasia

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Cervical spine in patients with diastrophic dysplasia--radiographic findings in 122 patients.

Source/Author: Remes VM, Marttinen EJ, Poussa MS, Helenius IJ, Peltonen JI.; Pediatr Radiol. 2002 Sep;32(9):621-8. Epub 2002 Jul 4. Related Articles, Links 

Abstract

Analysis of the anatomy of the cervical spine in diastrophic dysplasia to better understand its complications.

Diastrofia Displasia (Booklet)

Source/Author: Mary Carten and Vita Gagne with Dr. Charles Scott, Dr. Cheryl Reid and Dr. Monica Carten.

Medical Review

In SPANISH.

Booklet on diastrophic dysplasia for patients and families. Multiple pictures of people with diastrophic dysplasia. Discusses clinical features, mobility and development, anesthesia, pregnancy and resources. 

Diastrophic dwarfism

Source/Author: M. le Merrer, M.D.; Orphanet 

Web-based (medical)

Brief overview of the condition, scientific citations, clinical features and other web sites.

Diastrophic Dysplasia

Source/Author: National Organization of Rare Diseases 

Web-based (medical)

Description of the clinical features/characteristics, medical complications and genetics of this condition.

DIASTROPHIC DYSPLASIA

Source/Author: OMIM, Online Mendelian Inheritance in Man 

Web-based (medical)

Medical/Scientific description of Diastrophic Dysplasia with emphasis on the genetics of the condition.

Diastrophic Dysplasia

Source/Author: Luisa Bonafe, MD, PhD, Andrea Superti-Furga, MD - GeneReviews 

Web-based (medical)

Detailed, numerous hyperlinks. Discusses: Diagnosis; Clinical Description; Differential Diagnosis; Management; Genetic Counseling; Molecular Genetics; Resources.

DIASTROPHIC DYSPLASIA

Source/Author: Giuseppe Selva. M.D., S. Jay Kumar, M.D. 

Web-based (medical)

Clinical case presentation of a patient with diastrophic dysplasia with emphasis on the orthopedics of the condition.

Medical information - Diastrophic Dysplasia

Source/Author: Restricted Growth Association 

Support Group

Basic overview of this condition. 

Diastrophic dysplasia

Source/Author: Geneva Foundation for Medical Education and Research 

Web-based (medical)

X-rays and photographs of diastrophic dysplasia.

Diastrophic Dysplasia

Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours

Medical review

Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis, etc.

Diastrophic Dysplasia Booklet

Source/Author: Mary Carten and Vita Gagne with Dr. Charles Scott, Dr. Cheryl Reid and Dr. Monica Carten 

Medical review

Booklet on diastrophic dysplasia for patients and families. Written in lay terms. Multiple pictures of people with diastrophic dysplasia. Discusses clinical features, mobility and development, anesthesia, pregnancy and resources.

Growth chart for diastrophic dysplasia, males and females

Source/Author: WM Horton et al 

Growth chart 

Single chart by age for males and females with diastrophic dysplasia. Height needs to be converted to centimeters.

Growth chart for males and females with diastrophic dysplasia

Source/Author: Makitie O and Kaitila I 

Growth chart

Individual growth charts for boys and girls with diastrophic dysplasia. Measurements must be converted to centimeters

Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound.

Source/Author: Gembruch U, Niesen M, Kehrberg H, Hansmann M.; Prenat Diagn. 1988 Sep;8(7):539-45. 

Abstract

DIASTROPHIC HELP

Support Group

Web site for parents of children with diastrophic dysplasia. Information on adaptations that can be made to help a child with this condition be independent.

Growth in diastrophic dysplasia.

Source/Author: Makitie O, Kaitila I.; J Pediatr. 1997 Apr;130(4):641-6 

Abstract

Growth charts for diastrophic dysplasia

Motor milestones in children with diastrophic dysplasia.

Source/Author: Crockett MM, Carten MF, Hurko O, Sponseller PD.; J Pediatr Orthop. 2000 Jul-Aug;20(4):437-41 

Abstract 

Provides average ages for motor milestone attainment for children with diastrophic dysplasia

Full text article available by contacting medical@lpaonline.org

Natural History: Diastrophic Dysplasia

Source/Author: Richard M. Pauli, M.D., Ph.D. 

Medical Review

Review of the various medical complications that can occur with diastrophic dysplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Patient Guide to Diastrophic Dysplasia

Source/Author: Paul Sponseller, Michael Ain, Nancy Miller, Michael Bank. Dept of Orthopedic Surgery, Johns Hopkins.

Web-based (lay)

Article in lay terms on the causes, symptoms, and natural history of diastrophic dysplasia. 

Prenatal sonographic diagnosis of diastrophic dwarfism.

Source/Author: Tongsong T, Wanapirak C, Sirichotiyakul S, Chanprapaph P.; J Clin Ultrasound. 2002 Feb;30(2):103-5. 

Abstract 

Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation.

Source/Author: Severi FM, Bocchi C, Sanseverino F, Petraglia F.; J Matern Fetal Neonatal Med. 2003 Apr;13(4):282-4.

Abstract 

The knee joint in diastrophic dysplasia. A clinical and radiological study.

Source/Author: Peltonen J, Vaara P, Marttinen E, Ryoppy S, Poussa M.; J Bone Joint Surg Br. 1999 Jul;81(4):625-31. 

Abstract 

Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis.

Source/Author: Remes V, Tervahartiala P, Poussa M, Peltonen J.; Spine. 2001 Jan 15;26(2):187-95. 

Abstract 

Total Hip Arthroplasty in Diastrophic Dysplasia

Source/Author: Ilkka Helenius, MD, PhD, Ville Remes, MD, PhD, Kaj Tallroth, MD, PhD, Jari Peltonen, MD, PhD, Mikko Poussa, MD, PhD and Timo Paavilainen, MD, PhD 

Full text

In depth medical journal article about this group's extensive experience with hip replacement in diastrophic dysplasia.

Total Knee Arthroplasty in Patients with Diastrophic Dysplasia

Source/Author: Helenius I, Remes V, Lohman M, Tallroth K, Poussa M, Helenius M, Paavilainen T.

Full text

In depth medical journal article about this group's extensive experience with knee replacement in diastrophic dysplasia.

Walking ability in patients with diastrophic dysplasia: a clinical, electroneurophysiological, treadmill, and MRI analysis.

Source/Author: Remes V, Poussa M, Lonnqvist T, Puusa A, Tervahartiala P, Helenius I, Peltonen J.; J Pediatr Orthop. 2004 Sep-Oct;24(5):546-51 

Abstract 

Understanding the etiology of walking difficulties and differences in diastrophic dysplasia. 

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.

Source/Author: Jung C, Sohn C, Sergi C.; Prenat Diagn. 1998 Apr;18(4):378-83. 

Abstract

DIASTROPHIC DYSPLASIA

Source/Author: Giuseppe Selva. M.D., S. Jay Kumar, M.D., ORTHOPAEDIC DEPARTMENT, THE ALFRED I. DUPONT INSTITUTE 

Web-based (medical)

Medical case presentation of an individual with diastrophic dysplasia, including clinic features, genetics, radiographic features, joint/orthopedic issues. 

 

 
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