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Quoted phrase not found in phrase index: "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"
Page 1
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849
In 1999, based on a single family, spondyloepimetaphyseal dysplasia (SEMD) with mental retardation (MR) was described as a novel syndrome with probably X-linked recessive inheritance and unknown molecular defect (MIM 300232). ...Our results place SEMD as the third i …
In 1999, based on a single family, spondyloepimetaphyseal dysplasia (SEMD) with mental retardation (MR) was described as a novel s …
A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A. Isidor B, et al. Am J Med Genet A. 2013 Oct;161A(10):2645-51. doi: 10.1002/ajmg.a.36132. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956136
We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing of the legs with genu varum. ...Direct sequenc …
We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth length, earl …
Occipitocervical fusion in skeletal dysplasia: a new surgical technique.
Sitoula P, Mackenzie WG, Shah SA, Thacker M, Ditro C, Holmes L Jr, Campbell JW, Rogers KJ. Sitoula P, et al. Spine (Phila Pa 1976). 2014 Jul 1;39(15):E912-8. doi: 10.1097/BRS.0000000000000381. Spine (Phila Pa 1976). 2014. PMID: 24825152
This technique was used as a primary procedure in 20 and a revision procedure in 4 patients. Diagnoses included Morquio syndrome (6), spondyloepiphyseal dysplasia (9), spondyloepimetaphyseal dysplasia (5), metatropic dysplasia (3), and Kniest syndrome (1). .. …
This technique was used as a primary procedure in 20 and a revision procedure in 4 patients. Diagnoses included Morquio syndrome (6), …
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
Merrick B, Calder A, Wakeling E. Merrick B, et al. Am J Med Genet A. 2015 Dec;167A(12):3103-7. doi: 10.1002/ajmg.a.37282. Epub 2015 Aug 6. Am J Med Genet A. 2015. PMID: 26250472
We report on a case with radiographic features of DSC with overlap into the type II collagenopathy spondyloepimetaphyseal dysplasia, Strudwick type, who was found to carry a novel heterozygous mutation in the COL2A1 gene. ...
We report on a case with radiographic features of DSC with overlap into the type II collagenopathy spondyloepimetaphyseal dysplasia, …
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V. Neumann LM, et al. Am J Med Genet A. 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. Am J Med Genet A. 2006. PMID: 16470731
Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo-epi-metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapped to chromoso …
Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessiv …
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. El Ghouzzi V, et al. Hum Mol Genet. 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. Hum Mol Genet. 2003. PMID: 12554689
Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal-recessive disorder, the gene for which maps to chromosome 18q21.1. ...The DMC gene transcript is widely distributed but appears abundant in chondrocytes and fetal brain. The predicted protein product of the …
Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal-recessive disorder, the gene for which maps to chromosome 18q21.1. ...The …
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB. Sellars EA, et al. Semin Pediatr Neurol. 2014 Jun;21(2):84-7. doi: 10.1016/j.spen.2014.04.007. Epub 2014 Apr 13. Semin Pediatr Neurol. 2014. PMID: 25149931
Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1. ...Our patient expands the phenotype of these diagnoses, as anterior segment eye anomalies have not been de …
Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid type 2 and spondyloepimetaphyseal dys …