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congenita Spondyloepiphyseal dysplasia

Also Known As:
Spondyloepiphyseal dysplasia, congenita; Spondyloepiphyseal dysplasia, congenital type
Networked: 49 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Mackenzie, William G: 1 article (10/2015)
2. White, Klane K: 1 article (10/2015)
3. Rogers, Kenneth: 1 article (10/2015)
4. Pruszczynski, Blazej: 1 article (10/2015)
5. Huang, Xiangjun: 1 article (01/2015)
6. Deng, Xiong: 1 article (01/2015)
7. Xu, Hongbo: 1 article (01/2015)
8. Wu, Song: 1 article (01/2015)
9. Yang, Yan: 1 article (01/2015)
10. Yang, Zhijian: 1 article (01/2015)

Related Diseases

1. Dwarfism
2. Achondroplasia
3. Osteoarthritis
4. Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
09/01/2008 - "Functional outcomes were poor in coxa vara associated with poor epiphyseal development (nonossified or fragmented epiphysis) as seen in spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia, Kniest disease, and multiple epiphyseal dysplasia. "
11/20/1995 - "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. "
07/01/1993 - "After one year of follow-up, it was noted that the pretreatment growth rate which was 2.5 cm/yr in the patient with spondyloepiphyseal dysplasia congenita (chronological age, 13 4/12 yr) had increased to 6.7 cm/yr after one year of treatment, while the pretreatment growth rate of the patient with hypochrondroplasia (chronological age, 12 7/12 yr) which was recorded at 2 cm/yr had risen to 5.3 cm/yr. The patient with multiple epiphyseal dysplasia (chronological age, 9 5/12 yr) had a pretreatment growth rate of 1.5 cm/yr which had risen to 8 cm/yr after the same period of treatment. "
11/05/1992 - "The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. "
12/01/2008 - "The common skeletal phenotypes include achondrogenesis type II, hypochondrogenesis, Stickler dysplasia, Kniest dysplasia, late onset spondyloepiphyseal dysplasia, and spondyloepiphyseal dysplasia congenita (SEDC). "
5. Osteogenesis Imperfecta (Lobstein Disease)
09/01/2003 - "We summarize seven occurrences of four combinations of double heterozygosity (achondroplasia/spondyloepiphyseal dysplasia congenita, achondroplasia/pseudoachondroplasia, achondroplasia/osteogenesis imperfecta type I, achondroplasia/hypochondroplasia (non-FGFR3)), and review additional reports from the literature. "
01/01/1992 - "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 discussed. "
08/01/1979 - "No abnormalities were detected in the following syndromes: achondroplasia, diastrophic dwarfism, thanatophoric dwarfism, Jeune disease, spondyloepiphyseal dysplasia congenita, Kozlowski syndrome, osteogenesis imperfecta, polyepiphyseal dysplasia with diabetes mellitus."
01/01/2007 - "The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia), muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis) in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. "
07/05/1991 - "Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV. Amplified alpha 1(II) cDNA from fibroblasts and lymphoblastoid cells of a child with spondyloepiphyseal dysplasia congenita was also used to localize sequence mismatches using chemical modification of cDNA:cDNA heteroduplexes by hydroxylamine and cleavage with piperidine. "

Related Drugs and Biologics

1. Pseudoachondroplasia
2. Collagen Type II (Type II Collagen)
3. Kniest dysplasia
4. Diastrophic dysplasia
5. Collagen Type I (Type I Collagen)
6. Hydroxylamine (Hydroxylamine Hydrochloride)
7. Complementary DNA (cDNA)
8. Growth Hormone (Somatotropin)
9. Shprintzen VCF syndrome
10. Pyle disease

Related Therapies and Procedures

1. Artificial Respiration (Mechanical Ventilation)