Medical Information about Kniest, SED, and SEDC
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Skeletal Dysplasia Clinics
- Skeletal Dysplasia Clinic in Akron, Ohio: http://www.akronchildrens.org/depts-services/skel_dysplasia/index.html.
There are a few short biographies of some of the patients who are part of the clinic.
- Alfred I. duPont Hospital for Children in Wilmington, Delaware: http://kidshealth.org/
Their site contains some interesting on-line clinical cases. Make sure to visit their Pediatric Orthopedic Unit http://gait.aidi.udel.edu/res695/homepage/pd_ortho/orthhome.htm.
- Greenberg Center for Skeletal Dysplasias, Baltimore, MD: http://www.med.jhu.edu/Greenberg.Center/Greenbrg.htm
The Greenberg Center web page has clinical summaries on-line and some good tutorials on genetics.
- International Skeletal Dysplasia Registry, Los Angeles, CA: http://www.csmc.edu/genetics/skeldys
The registry is part of the Cedars Sinai hospital and stores X-rays, tissue samples, and clinical information. They also assist with diagnosis of conditions, as well as collaborative publications.
- Hospital for Special Surgery Skeletal Dysplasia Center.
Call (212) 774-7332 or email email@example.com for more information.
535 East 70th Street/New York, NY 10021.
HSS also provides a free physician referral service: Call (212) 606-1753 or 1-866-749-7047 (U.S. Only), 9 a.m. to 5 p.m., Monday - Friday.
- The Northern California Skeletal Dysplasia Clinic in Oakland, California:
This is a joint program between Kaiser Permanente Northern California and Oakland Children's Hospital, http://www.childrenshospitaloakland.org/. This multispecialty clinic alternates between the Kaiser Oakland California Genetics department and Oakland Children's Hospital.
- Skeletal Dysplasia Clinic in Texas:
The Skeletal Dysplasia Clinic meets on the second Friday afternoon of each month in the Orthopedic Suite in the Feigin Center, at Texas Children's Hospital.
- University Children's Hospital at the University of Zurich, Switzerland: http://www.kispi.unizh.ch/
This hospital provides assistance in diagnosis, tissue samples, and X-rays.
- Read a fact sheet about Kniest written by the web page authors.
- Office of Rare Diseases Kniest Page . You can look up clinical trials, find journal articles, research government services, find support groups, learn about genetics, look up conferences and more. This government sponsored page is updated regularly.
- Research the many resources available at LPA's on-line library and the LPA Medical Resource Center (web site as of 11/05).
- Kniest Dysplasia (OMIM #156550), description and summary of science journal articles.
- Read a term paper on Kniest. Print out and read for yourself or bring to a doctor's appointment.
- NORD (National Organization for Rare Diseases) resources on Kniest Dysplasia.
- Personal web site of a young man with Kniest: http://membres.lycos.fr/kniest/ . This web page has comprehensive medical links.
- Greenberg SED and Kniest links http://www.hopkinsmedicine.org/greenbergcenter/SED.htm
- Find a doctor who knows about Kniest Dysplasia, a support group in your country, or an e-group.
- Google directory on Kniest links
- Find scholarships for people with Kniest Dysplasia and related conditions at the KSG Scholarship Center.
Journal Articles About Kniest, selected science magazine articles
- Small deletions in the type II collagen triple helix produce kniest dysplasia by Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. published in Am J Med Genet. 1999 Jul 16;85(2):105-12.
- Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation by Mary Ann Weis, Douglas J. Wilkin, Hyon J. Kim, William R. Wilcox, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn, and David R. Eyre published in J. Biol. Chem, Feb 1998; 273: 4761 - 4768.
- Kniest dysplasia: patient's growth progress and development--evolution of abnormalities, 30 year follow up by Kozic S, Sestan B, Matovinovic D. published in Acta Med Okayama published in 1997 Oct;51(5):285-94.
- A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. by Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH. 1995 Feb;4(2):285-8
- The type II collagenopathies: a spectrum of chondrodysplasias by Spranger J, Winterpacht A, Zabel B. published in Eur J Pediatr. 1994 Feb;153(2):56-65. Review.
- Spondyloepiphyseal Dysplasia Congenita (SEDC)
- Spondyloepiphyseal Dysplasia Tarda, SED X-Linked (SEDT)
Spondyloepiphyseal Dysplasia Congenita (SEDC)
- Office of Rare Diseases Spondyloepiphyseal Dysplasia Page . You can look up clinical trials, find journal articles, research government services, find support groups, learn about genetics, look up conferences and more. This government sponsored page is updated regularly.
- Little People of America's Medical Resource Center SEDC Resources.
- SEDC (McKusick Index #183900).
- Patient's Guide to SEDC written by staff at Johns Hopkins University.
- Emedicine article: http://www.emedicine.com/orthoped/topic630.htm
- Human Genome Web Page Link to a possible mutation for SED: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=128.
- Google directory of links of SEDC (last checked November 2005)
Journal Articles About Spondyloepiphyseal Dysplasia Congenita, selected science magazine articles
- A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. J Bone Miner Res. 2003 Sep;18(9):1612-21. PMID: 12968670. Donahue LR, Chang B, Mohan S, Miyakoshi N, Wergedal JE, Baylink DJ, Hawes NL, Rosen CJ, Ward-Bailey P, Zheng QY, Bronson RT, Johnson KR, Davisson MT. Related Articles, Links.
- Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene by S Eyre, P Roby, K Wolstencroft, K Spreckley, R Aspinwall, R Bayoumi, L Al-Gazali, R Ramesar, P Beighton, and G Wallis published in J. Med. Genet., Sep 2002; 39: 634 - 638.
- Successful epidural anaesthesia for Caesarean section in a patient with spondyloepiphyseal dysplasia for an a case report of a woman with SEDC who had an epidural during a cesarean section delivery. by H.D. de Boer, A. Hemelaar, R. van Dongen and M. J. M. Gielen published in Br. J. Anaesth., Jan 2001; 86: 133 - 134.
- Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia by D Chan, TK Taylor, and WG Cole published in J. Biol. Chem, Jul 1993; 268: 15238 - 15245.
- Tandem Duplication Within a Type II Collagen Gene (COL2A1) Exon in an Individual with Spondyloepiphyseal Dysplasia by GE Tiller, DL Rimoin, LW Murray, and DH Cohn published in PNAS, May 1990; 87: 3889 - 3893.
- NORD (National Organization for Rare Diseases) resources on SEDC.
- SED Tarda X-Linked (McKusick Index #313400). A description of the condition and list of science journal articles,
- SED-Tarda (McKusick Index #184100). A description of the condition and list of science journal articles.
- SED Tarda X-Linked Geneclinics profile
- Find scholarships for people with SEDT Dysplasia and related conditions at the KSG Scholarship Center.
Journal Articles About SEDT, selected science magazine articles
- X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations by Bar-Yosef U, Ohana E, Hershkovitz E, Perlmuter S, Ofir R, Birk OS published in Am J Med Genet. 2004 Feb 15;125A(1):45-8.
- Spondyloepiphyseal dysplasia tarda (SEDL, MIM # 313400). Ravi Savarirayan, Elizabeth Thompson, and Jozef Gécz. Practical Genetics, September 2003, Volume 11, Number 9, Pages 639-642.
- A 2003 paper comparing seven cases of SEDT: http://www.ijri.org/articles/archives/2003-13-2/ost199.htm
- Journal of Human Genetics article on The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda.
Full article and many references.
- Crystal Structure of SEDL and Its Implications for a Genetic Disease Spondyloepiphyseal Dysplasia Tarda by Se Bok Jang, Yeon-Gil Kim, Yong-Soon Cho, Pann-Ghill Suh, Kyung-Hwa Kim, and Byung-Ha Oh published in J. Biol. Chem., Vol. 277, Issue 51, 49863-49869, December 20, 2002.
- Abstract from article "Pre-Expression Evaluation of Spondyloepiphyseal Dysplasia Tarda By Sedlin Gene Analysis." G.S. Gottesman, S. Mumm, X. Zhang, W.H: http://www.faseb.org/geneti cs/ashg00/f541.htm.
- Abstract of another article about SED-Tarda by Gottesman, Mumm, and Zhang: http://www.jbmr-online.org/abstracts/01612/JBMR0161222450_abs.html (2001).
- Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda by Paul T. Christie, Alan Curley, M. Andrew Nesbit, Cyril Chapman, Sally Genet, Peter S. Harper, Sharon L. Keeling, Andrew O. M. Wilkie, Robin M. Winter, and Rajesh V. Thakker. Published in J. Clin. Endocrinol. Metab., Jul 2001; 86: 3233 - 3236.
- A Five-Base Pair Deletion in the Sedlin Gene Causes Spondyloepiphyseal Dysplasia Tarda in a Six-Generation Arkansas Kindred by Steven Mumm, Paul T. Christie, Patrick Finnegan, Jonathan Jones, Peter H. Dixon, Anna A. J. Pannett, Brian Harding, Gary S. Gottesman, Rajesh V. Thakker, and Michael P. Whyte published in J. Clin. Endocrinol. Metab., Sep 2000; 85: 3343 - 3347.
- X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature by Whyte MP, Gottesman GS, Eddy MC, McAlister WH published in 1999 Jan;78(1):9-25.
- SED-Toledo Type (McKusick Index #271630)
Spondylometaphyseal Dysplasia (SMD) Links
- Office of Rare Diseases Spondylometaphyseal Dysplasia Corner Fracture Page . You can look up clinical trials, find journal articles, research government services, find support groups, learn about genetics, look up conferences and more. This government sponsored page is updated regularly.
- Little People of America Medical resource information on Spondylometaphyseal dysplasia corner fracture type (URL as of November 2005)
- SMD - Corner Fracture Type: description of condition and list of science journal articles. (McKusick Index #184255).
- Find scholarships for people with SMD Corner Fracture and related conditions at the KSG Scholarship Center
- Find a doctor who knows about SMD Corner Fracture Type, a support group in your country, or an e-group.
Journal Articles About Spondylometaphyseal Dysplasia Corner Fracture Type, selected science magazine articles
- Mutation of the Type X Collagen Gene (COL10A1) Causes Spondylometaphyseal Dysplasia by Shiro Ikegawa, Gen Nishimura, Toshiro Nagai,4 Tomonobu Hasegawa, Hirofumi Ohashi, and Yusuke Nakamura published in Am. J. Hum. Genet., 63:1659-1662, 1998.
- A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis by Sutton VR, Hyland JC, Phillips WA, Schlesinger AE, Brill PW published in Am J Med Genet A. 2005 Jan 21.
- A science paper about 3 case reports of SMD corner fracture type: Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases. by Currarino G, Birch JG, Herring JA. published in Department of Radiology, University of Texas, Southwestern Medical Center, Dallas, TX, USA.
- A science paper which discusses what to look for when diagnosing SMD-corner fracture type: Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara by Langer LO Jr, Brill PW, Ozonoff MB, Pauli RM, Wilson WG, Alford BA, Pavlov H, Drake DG. published in Radiology. 1990 Jun;175(3):761-6.
- Fact sheet about Spondylometaphyseal Dysplasia, type Kozlowski (SMD-K) written by the web page authors.
- Office of Rare Diseases Spondylometaphyseal Dysplasia Corner Kozlowski Page . You can look up clinical trials, find journal articles, research government services, find support groups, look up conferences and more. This government sponsored page is updated regularly.
- SMD - Kozlowski type (SMD-K) (McKusick Index #184252)
- Little People Of America's Medical Resource Center Resources on SMD-K.
- America's health page on SMK-Kozlowski.
- Find scholarships for people with SMDK and related conditions at the KSG Scholarship Center.
Journal Articles About Spondylometaphyseal Dysplasia Corner Fracture Type, selected science magazine articles
- Japanese type of spondylo-metaphyseal dysplasia by Hasegawa T, Kozlowski K, Nishimura G, Hara H, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y. Published in Pediatr Radiol. 1994;24(3):194-7.
- Two cases of SMD-K with an unusual inheritance pattern: Two cases of spondylometaphyseal dysplasia. Literature review and discussion of the genetic inheritance of the disease by Nores JM, Dizien O, Remy JM, Maroteaux P. published in J Rheumatol. 1993 Jan;20(1):170-2. (1993)
- Spondylometaphyseal Dysplasia (Kozlowski type): case report by Cynthia M. Guzman, DMD and Geral R. Aaron, DDS, MS. Published in Pediatric Dentistry January/February 1993 Volume 15, Number 1 pages 49-52. (1993)
- A Familial Case of Spondylometaphyseal Dysplasia and A Review of the Literature by J.M. Nores, P. Denormandie, J.M. Remy published in Eur J Med. 1993 Mar;2(3):177-8. (1993)
- Chicken collagen X regulatory sequences restrict transgene expression to hypertrophic cartilage in mice by Campbell MR, Gress CJ, Appleman EH, Jacenko O published in Am J Pathol. 2004 Feb;164(2):487-99 (2004)
- Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia by Ikegawa S, Nishimura G, Nagai T, Hasegawa T, Ohashi H, Nakamura Y. published in Am J Hum Genet. 1998 Dec;63(6):1659-62 (1998)
- SMD - X-linked also known as SMD-Richmond Type (#313420) or the Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes page for X-linked SMD.
This condition was generalized from one family. The symptoms here are not correlated with other forms of SMD. The gene (or genes) for this condition has not been found, and mental retardation is thought to be associated, but not necessarily caused by this type of SMD. People with other forms of SMD usually have normal intelligence.
- http://www.sticklers.org/sip The Stickler Involved People web site. This site has quarterly updates, medical links, networking, and ways to cope.
- Gene Clinics Summary
- Online Mendelian Inheritance in Man (#108300) Summary and medical journal references.
- Boystown summary: http://www.boystownhospital.org/parents/info/genetics/stickler.asp
- British Stickler Support Group: http://www.stickler.org.uk/
- Dave Hawley's Stickler page: http://members.aol.com/dhawley/stickler.html
- Stickler's syndrome webring: http://www.sticklers.org/webring/ (last checked February 2005)
- Google Directory of Stickler's links (last checked November 2005)
- Find scholarships for people with Stickler's and related conditions at the KSG Scholarship Center.
- Metatropic Dysplasia
- Ulna Metaphyseal Dysplasia Syndrome
- Spondyloepimetaphyseal dysplasia type Strudwick, also known as spondylometaepiphyseal dysplasia type Strudwick or SEMD.
Metatropic Dysplasia Links
- Metatropic Dysplasia Registry - frequently asked questions, medical links, registry and support group of people with Metatropic Dysplasia.
- Little People of America Medical resource Center Metatropic Dysplasia Page - is the Little People of America's official site for medical information about dwarfism (conditions of short stature).
- Neymours Page on Metatropic Dysplasia - overview of Metatropic dysplasia and information about medical management.
- Online Mendelian Inheritance in Man (OMIM) Metatropic Dysplasia Page (#250600.) A description of the condition and list of science journal articles.
- National Organization for Rare Disorder's Metatropic Dysplasia type I page
- Office of Rare Diseases Metatropic Dysplasia Page . You can look up clinical trials, find journal articles, research government services, find support groups, look up conferences and more. This government sponsored page is updated regularly.
Ulna Metaphyseal Dysplasia Links
- Ulna Metaphyseal Dysplasia Syndrome (McKusick Index #191420)
Spondyloepimetaphyseal Dysplasia Strudwick Dysplasia Links
- Spondyloepimetaphyseal type Strudwick or Spondylometaphyseal type Strudwick SMED - Strudwick type also known as SEMD - Strudwick type (#184250) (To confuse matters more, this condition is also sometimes known as SMD Strudwick, though there are changes in BOTH the epiphyseal and metaphyseal bone layers)
- National Library of Medicine's web page on SEMD Strudwick You can look up clinical trials, find journal articles, research government services, find support groups, look up conferences and more. This government sponsored page is updated regularly.
- http://orphanet.infobiogen.fr/data/patho/GB/uk-SEMD.html give a helpful description to the Spondyloepimetaphyseal dysplasias.
- National Organization for Rare Disorders (NORD) page on Spondyloepimetaphyseal Dysplasia.