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dentinogenesis imperfecta/sordesa
L'enllaç es desa al porta-retalls
Pàgina 1 des de 40 resultats
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.
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Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. The DGI1 locus was recently refined to a 2-Mb interval on 4q21 (ref. 1). Here we study three Chinese families carrying DGI1. We find that the
Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?
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The follow-up history and oral findings in two brothers from consanguineous parents suggest that the association of dentinogenesis imperfecta (DI), delayed tooth eruption, mild mental retardation, proportionate short stature, sensorineural hearing loss and dysmorphic facies may represent a new
Dentinogenesis imperfecta type II in Swedish children and adolescents.
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BACKGROUND
Dentinogenesis imperfecta (DGI) is a heritable disorder of dentin. Genetic analyses have found two subgroups in this disorder: DGI type I, a syndromic form associated with osteogenesis imperfecta (OI), and DGI type II, a non-syndromic form. The differential diagnosis between types I and
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.
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A rare compound mutation involving a 36 bp deletion and 18 bp insertion within exon 5 of the dentin sialophosphoprotein (DSPP) gene has been identified in a family with dentinogenesis imperfecta type III (DGI-III). The DSPP gene encodes two major tooth matrix proteins dentin sialoprotein (DSP) and
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.
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Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM #125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II,
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.
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BACKGROUND
Several studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II) may be caused by mutations in dentin sialophosphoprotein (DSPP). However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from
Pediatric dental management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta.
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Osteogenesis imperfecta (OI) is a genetic disorder that affects all connective tissue. Clinical manifestations of OI include bone fragility, hyperlaxity of joints, hearing loss, abnormalities of stature and facial structure, blue sclerae, and dentinogenesis imperfecta (DI). OI is classified into
Hearing loss in osteogenesis imperfecta: characteristics and treatment considerations.
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Osteogenesis imperfecta (OI) is the most common heritable disorder of connective tissue. It is associated with fractures following relatively minor injury, blue sclerae, dentinogenesis imperfecta, increased joint mobility, short stature, and hearing loss. Structures in the otic capsule and inner ear
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
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The dentin sialophosphoprotein (DSPP) gene (4q21.3) encodes two major noncollagenous dentin matrix proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Defects in the human gene encoding DSPP cause inherited dentin defects, and these defects can be associated with bilateral
Osteogenesis Imperfecta
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Osteogenesis imperfecta (OI, or Brittle Bone Disease) is a clinically and genetically heterogeneous group of heritable disorders of connective tissue. The incidence of forms recognizable at birth is 1:10-20,000. The hallmark feature of OI is bone fragility, with susceptibility to fracture from
[Genetic mutation and clinical features of osteogenesis imperfecta type V].
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OBJECTIVE
To explore genetic mutations and clinical features of osteogenesis imperfecta type V.
METHODS
Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
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We identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs was effective in increasing BMD Z-score,
Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta: A Case Report.
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METHODS
We report a case of heterozygous mutation of c.-14C>T in the 5'-untranslated region of the interferon-induced transmembrane protein 5 in a nine-year-old girl. She was diagnosed with type-V osteogenesis imperfecta based on the classic features of bone fragility, radial head dislocation,
COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.
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Osteogenesis imperfecta (OI) is a generalised disorder of connective tissue characterised by an increased fragility of bones and also manifested in other tissues containing collagen type I, by blue sclera, hearing loss, dentinogenesis imperfecta, hyperextensible joints, hernias and easy bruising. OI
Management of Multiple Mandibular Fractures in a Child with Osteogenesis Imperfecta Using Arch Bar Retained Thermoformed Splints: A Novel Technique.
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Osteogenesis Imperfecta (OI) is a heterogeneous group of autosomal dominant and recessive inherited disorders of type I collagen metabolism. Clinical features of OI include multiple bone fractures, muscle weakness, joint laxity, skeletal deformities, blue sclerae, hearing loss, and dentinogenesis
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