窒息性胸郭異形成症
WordNet
- abnormal development (of organs or cells) or an abnormal structure resulting from such growth
- tending to deprive of oxygen; "asphyxiating gasses"
PrepTutorEJDIC
- 胸の,胸部の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/02/11 10:46:47」(JST)
[Wiki en表示]
| Asphyxiating thoracic dysplasia |
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CXR of a newborn with asphyxiating thoracic dysplasia. Note the short ribs.
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| Classification and external resources |
| OMIM |
208500 |
| DiseasesDB |
32469 |
| eMedicine |
article/945537 |
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[edit on Wikidata]
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Lateral CXR of the same person above.
Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.
It is also known as "Jeune syndrome".[1]
It was described in 1955.[2][3]
Types include:
| Type |
OMIM |
Gene |
Locus |
| ATD1 |
208500 |
? |
15q13 |
| ATD2 |
611263 |
IFT80 |
3q |
| ATD3 |
613091 |
DYNC2H1 |
11q |
Jeune syndrome is a rare genetic disorder that affects the way a child’s cartilage and bones develop. It begins before the child is born. Jeune syndrome affects the child's rib cage, pelvis, arms and legs. Usually, problems with the rib cage cause the most serious health problems for children with Jeune syndrome. Their rib cages (thorax) are smaller and narrower than usual. This can keep the child's lungs from developing fully or expanding when the child inhales. The child may breathe rapidly and shallowly. They may have trouble breathing when they have an upper or lower respiratory infection, like pneumonia. Breathing trouble can range from mild to severe. In some children, it’s not noticeable, aside from fast breathing. In most children, breathing problems are serious. About 60% to 70% of children with this condition die from respiratory failure as babies or young children. Children with Jeune syndrome who survive often develop problems with their kidneys, another serious feature of Jeune syndrome. Over time their kidneys may fail (called “renal failure”), which means they need dialysis (a process for filtering blood using a machine) or a kidney transplant to survive. As a result, few children with Jeune syndrome live into their teen years. Children with Jeune syndrome have a form of dwarfism. They are short in stature, and their arms and legs are shorter than most people’s. Another name for Jeune syndrome is asphyxiating thoracic dystrophy (pronounced as-FIK-see-ate-ing tho-RASS-ik DISS-troh-fee). This diagnosis is grouped with other chest problems called thoracic (pronounced tho-RASS-ik) insufficiency syndrome (TIS). TIS is often caused by skeletal problems, such as scoliosis (in which the spine curves to the side) or other problems with the formation of the ribs.
References
- ^ de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC (January 2010). "Jeune syndrome: description of 13 cases and a proposal for follow-up protocol". Eur. J. Pediatr. 169 (1): 77–88. doi:10.1007/s00431-009-0991-3. PMC 2776156. PMID 19430947.
- ^ Diana W. Bianchi; Timothy M. Crombleholme; Mary E. D'Alton (2000). Fetology: diagnosis & management of the fetal patient. McGraw-Hill Professional. pp. 673–. ISBN 978-0-8385-2570-8. Retrieved 25 November 2010.
- ^ JEUNE M, BERAUD C, CARRON R (1955). "[Asphyxiating thoracic dystrophy with familial characteristics.]". Arch. Fr. Pediatr. (in French) 12 (8): 886–91. PMID 13292988.
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Diseases of cilia
|
|
| Structural |
- receptor: Polycystic kidney disease
- cargo: Asphyxiating thoracic dysplasia
- basal body: Bardet–Biedl syndrome
- mitotic spindle: Meckel syndrome
- centrosome: Joubert syndrome
|
|
| Signaling |
|
|
| Other/ungrouped |
- Alström syndrome
- Primary ciliary dyskinesia
- Senior–Løken syndrome
- Orofaciodigital syndrome 1
- McKusick–Kaufman syndrome
- Autosomal recessive polycystic kidney
|
|
|
See also: ciliary proteins
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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|
|
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Cytoskeletal defects
|
|
| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
|
|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
|
|
| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
|
| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
|
| Titin |
- Hypertrophic cardiomyopathy 9
|
|
|
| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
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|
|
| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
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|
| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
|
|
| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
|
|
| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
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|
|
| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
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| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
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|
| Other |
- Tauopathy
- Cavernous venous malformation
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|
|
| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
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|
| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
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| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
|
|
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See also: cytoskeletal proteins
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
|
|
UpToDate Contents
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- 1. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
- 2. 胸壁疾患 diseases of the chest wall
- 3. 嚢胞性腎疾患の胎児超音波診断 prenatal sonographic diagnosis of cystic renal disease
- 4. ネフロン癆の臨床症状、診断、および治療 clinical manifestations diagnosis and treatment of nephronophthisis
- 5. 小児における腎嚢胞性疾患 renal cystic diseases in children
English Journal
- New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.
- Cossu C1, Incani F2, Serra ML3, Coiana A4, Crisponi G5, Boccone L6, Rosatelli MC7.
- Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2016 Feb 11;455:172-180. doi: 10.1016/j.cca.2016.02.006. [Epub ahead of print]
- Jeune asphyxiating thoracic dystrophy (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with short-rib polydactyly syndromes (SRPS). JATD typical hallmarks include skeletal abnormalities such as narrow chest, shortened ribs, limbs shortened
- PMID 26874042
- Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
- Wang Z1,2, Iida A1, Miyake N3, Nishiguchi KM4, Fujita K5, Nakazawa T4,5,6, Alswaid A7, Albalwi MA8, Kim OH9, Cho TJ10, Lim GY11, Isidor B12, David A12, Rustad CF13, Merckoll E14, Westvik J14, Stattin EL15, Grigelioniene G16, Kou I1, Nakajima M1, Ohashi H17, Smithson S18, Matsumoto N3, Nishimura G19, Ikegawa S1.
- PloS one.PLoS One.2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016.
- Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations hav
- PMID 26974433
- [Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia].
- Ramos Mejía R1, del Pino M1, Obregón MG2, Fano V1.
- Archivos argentinos de pediatría.Arch Argent Pediatr.2015 Dec 1;113(6):e357-62.
- Asphyxiating thoracic dysplasia is an uncommon condition with multiple organ affectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment
- PMID 26593817
Japanese Journal
- Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography
- Journal of Obstetrics and Gynaecology Research 37(2), 151-155, 2011-02
- NAID 120005311807
- 研究・症例 重症度の異なるJeune症候群の兄弟例
- 症例報告 窒息性胸郭異形成症(Jeune症候群)の1例
Related Links
- asphyxiating thoracic dysplasia. See Jeune's syndrome. asphyxiating thoracic dystrophy [MIM*208500] hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. Synonym(s): asphyxiating thoracic ...
- Asphyxiating thoracic dysplasia (also known as Jeune syndrome) is a type of rare short limb skeletal dysplasia, which is primarily characterised by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic ...
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- breast、chest、pectoral、pectoral region、thoraces、thoracic cavity、thoracic cord、thoracic spinal cord、thoracic spine、thoracic vertebra、thoracic vertebrae、thorax、vertebrae thoracicae