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Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W. Liu L, et al. Eur Spine J. 2016 Sep;25(9):2967-74. doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8. Eur Spine J. 2016. PMID: 27059630 Review.
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through a …
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in th …
[Spondyloepiphyseal dysplasia congenita].
Nishimura G. Nishimura G. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):688-9. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528966 Review. Japanese. No abstract available.
Review of cervical spine anomalies in genetic syndromes.
McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. McKay SD, et al. Spine (Phila Pa 1976). 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. Spine (Phila Pa 1976). 2012. PMID: 22045003 Review.
The information is presented in the following order: First, the identification and treatment of midcervical kyphosis in Larsen syndrome and diastrophic dysplasia (DD). Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, pseudoachondropl …
The information is presented in the following order: First, the identification and treatment of midcervical kyphosis in Larsen syndrome and …
Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita.
Miyoshi K, Nakamura K, Haga N, Mikami Y. Miyoshi K, et al. Spine (Phila Pa 1976). 2004 Nov 1;29(21):E488-91. doi: 10.1097/01.brs.0000143621.37688.f3. Spine (Phila Pa 1976). 2004. PMID: 15507788 Review.
STUDY DESIGN: A retrospective review of 21 patients with spondyloepiphyseal dysplasia congenita (SEDC), including 7 operated patients for atlantoaxial subluxation. ...SUMMARY AND BACKGROUND DATA: The presence of atlanto axial sublucation with hypoplasia of th …
STUDY DESIGN: A retrospective review of 21 patients with spondyloepiphyseal dysplasia congenita (SEDC), including 7 ope …
The type II collagenopathies: a spectrum of chondrodysplasias.
Spranger J, Winterpacht A, Zabel B. Spranger J, et al. Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. Eur J Pediatr. 1994. PMID: 8157027 Review.
Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthroophthalmopathy and mild dominant spondyloarth …
Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spo …
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL. Lachman RS, et al. Eur J Radiol. 1992 Jan-Feb;14(1):1-10. doi: 10.1016/0720-048x(92)90052-b. Eur J Radiol. 1992. PMID: 1563395 Review.
The only known type I collagen defects producing skeletal dysplasias--osteogenesis imperfecta, as well as the 'family' of established type II collagen disorders--achondrogenesis type II, hypochondrogenesis and spondyloepiphyseal dysplasia congenita are discus …
The only known type I collagen defects producing skeletal dysplasias--osteogenesis imperfecta, as well as the 'family' of established type I …
Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis.
Pruszczynski B, Mackenzie WG, Rogers K, White KK. Pruszczynski B, et al. Clin Orthop Relat Res. 2015 Oct;473(10):3315-20. doi: 10.1007/s11999-015-4437-0. Epub 2015 Aug 5. Clin Orthop Relat Res. 2015. PMID: 26242281 Free PMC article. Review.
MR images were reviewed. Two patients were found-an 8.5-year-old boy with spondyloepiphyseal dysplasia congenita with a 76-thoracic kyphosis apex at T4 and a 6.5-year-old boy with mucopolysaccharidosis type 1-H with an 80-thoracic kyphosis apex at T2. ...CLIN …
MR images were reviewed. Two patients were found-an 8.5-year-old boy with spondyloepiphyseal dysplasia congenita with a …
A case report of spondyloepiphyseal dysplasia congenita.
Gembun Y, Nakayama Y, Shirai Y, Miyamoto M, Sawaizumi T, Kitamura S. Gembun Y, et al. J Nippon Med Sch. 2001 Apr;68(2):186-9. doi: 10.1272/jnms.68.186. J Nippon Med Sch. 2001. PMID: 11301365 Free article. Review.
Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia in the long bones and vertebral bodies. ...
Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital d …
Cardiac malformation in two infants with hypochondrogenesis.
Potocki L, Abuelo DN, Oyer CE. Potocki L, et al. Am J Med Genet. 1995 Nov 20;59(3):295-9. doi: 10.1002/ajmg.1320590306. Am J Med Genet. 1995. PMID: 8599352 Review.
These 4 were categorized in the spondyloepiphyseal dysplasia (SED) spectrum of disorders; specifically two patients with hypochondrogenesis and two with spondyloepiphyseal dysplasia congenita were identified. ...No cardiovascular abnormalities w …
These 4 were categorized in the spondyloepiphyseal dysplasia (SED) spectrum of disorders; specifically two patients with hypoc …
[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].
Czarny-Ratajczak M, Rogala P, Wolnik-Brzozowska D, Latos-Bieleńska A. Czarny-Ratajczak M, et al. Chir Narzadow Ruchu Ortop Pol. 2001;66(1):79-86. Chir Narzadow Ruchu Ortop Pol. 2001. PMID: 11481990 Review. Polish.
Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia congenita, Mar …
Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through …
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