致死性小人症、致死性低身長症
WordNet
- a genetic abnormality resulting in short stature (同)nanism
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/05/10 14:50:51」(JST)
[Wiki en表示]
| Thanatophoric dysplasia |
| Classification and external resources |
Radiogram of a baby born with thanatophoric dwarfism |
| ICD-10 |
Q77.1 |
| OMIM |
187600 |
| DiseasesDB |
29403 |
| eMedicine |
ped/2233 |
| MeSH |
D013796 |
Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.
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Contents
- 1 Symptoms
- 2 Causes
- 3 Classification
- 4 Prognosis
- 5 Incidence/Prevalence
- 6 References
- 7 External links
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Symptoms [edit]
Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs of the disorder include a narrow chest, small ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Thanatophoric dysplasia is a lethal skeletal dysplasia divided into two subtypes. Type I is characterized by extreme rhizomelia, bowed long bones, narrow thorax, a relatively large head, normal trunk length and absent cloverleaf skull. The spine shows platyspondyly, the cranium has a short base, and, frequently, the foramen magnum is decreased in size. The forehead is prominent, and hypertelorism and a saddle nose may be present. Hands and feet are normal, but fingers are short. Type II is characterized by short, straight long bones and cloverleaf skull.[1] It presents with typical telephone handled shaped long bones and a H-shaped vertebrae.
Causes [edit]
It can be associated with missense mutations in fibroblast growth factor receptor-3.[2][3]
Classification [edit]
Infants with type 1 thanatophoric dysplasia also have curved thigh bones, flattened bones of the spine (platyspondyly) and shortened thoracic ribs. Note: Prenatal ultra-sound images of the ribs sometimes appear asymmetrical when in fact they are not. In certain cases, this has caused a misdiagnosis of Osteogenisis Imperfecta (OI) type II.
An unusual head shape called kleeblattschädel ("cloverleaf skull") can be seen with type 2 thanatophoric dysplasia.[4]
Prognosis [edit]
The term thanatophoric is Greek for "death bearing". Children with this condition are sometimes stillborn or die shortly after birth from respiratory failure. Prematurity is more likely. The survivors have difficulty breathing on their own and require respiratory support such as high flow oxygen through a canula or ventilator support via tracheostomy. There may also be evidence of spinal stenosis and brain seizures. If prematurity is not too severe, a child born with thanatophoric dysplasia who receives ventilator support from birth has a good chance of survival. The oldest known living TD survivor is a 25-year old male. Another male lived to age 20. Two children with TD aged 10 and 12, a male and a female, are known in Germany. There is also a 6-year old male living with TD and two 1-year old males.[5]
Incidence/Prevalence [edit]
This condition affects about 1 in 60,000 births.[6]
References [edit]
- ^ http://www.thefetus.net/page.php?id=383
- ^ Bonaventure J, Gibbs L, Horne WC, Baron R (2007). "The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor". FEBS J. 274 (12): 3078–93. doi:10.1111/j.1742-4658.2007.05835.x. PMID 17509076.
- ^ Lievens PM, Liboi E (2003). "The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum". J. Biol. Chem. 278 (19): 17344–9. doi:10.1074/jbc.M212710200. PMID 12624096.
- ^ Norman AM, Rimmer S, Landy S, Donnai D (1992). "Thanatophoric dysplasia of the straight-bone type (type 2)". Clin. Dysmorphol. 1 (2): 115–20. doi:10.1097/00019605-199204000-00008. PMID 1345514.
- ^ Baker K.M., Olson D.S., Harding C.O., Pauli R.M., "Long-Term Survival in Typical Thanatophoric Dysplasia Type 1," Am J Med Genet 1997 Jun 27;70(4):427-36, http://www.ncbi.nlm.nih.gov/pubmed/9182787
- ^ Vajo, Zoltan, Francomano CA, Wilkin DJ (2000). "The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans". Endocr. Rev. 21 (1): 23–39. doi:10.1210/er.21.1.23. PMID 10696568.
External links [edit]
- GeneReview/NCBI/NIH/UW entry on Thanatophoric Dysplasia
- Thanatophoric dysplasia at NLM Genetics Home Reference
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Osteochondrodysplasia (Q77–Q78, 756.4–756.5)
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Osteodysplasia/
osteodystrophy |
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Diaphysis
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Camurati-Engelmann disease
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Metaphysis
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Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia
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Epiphysis
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Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia · Otospondylomegaepiphyseal dysplasia
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Osteosclerosis
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Raine syndrome · Osteopoikilosis · Osteopetrosis
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Other/ungrouped
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FLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia (McCune-Albright syndrome)
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Chondrodysplasia/
chondrodystrophy
(including dwarfism) |
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Osteochondroma
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osteochondromatosis (Hereditary multiple exostoses)
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Chondroma/enchondroma
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enchondromatosis (Ollier disease, Maffucci syndrome)
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Growth factor receptor
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FGFR2: Antley-Bixler syndrome
FGFR3: Achondroplasia (Hypochondroplasia) · Thanatophoric dysplasia
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COL2A1 collagen disease
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Achondrogenesis (type 2) · Hypochondrogenesis
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SLC26A2 sulfation defect
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Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia · Atelosteogenesis, type II · Diastrophic dysplasia
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Chondrodysplasia punctata
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Rhizomelic chondrodysplasia punctata · Conradi-Hünermann syndrome
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Other dwarfism
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Fibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosis
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anat (c/f/k/f, u, t/p, l)/phys/devp/cell
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noco/cong/tumr, sysi/epon, injr
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Genetic disorder, membrane: cell surface receptor deficiencies
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G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Male-limited precocious puberty)
- FSHR (XX gonadal dysgenesis)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
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| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
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| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
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| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
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Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
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| STPK |
- AMHR2 (Persistent Mullerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys-Dietz syndrome)
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| GC |
- GUCY2D (Leber's congenital amaurosis 1)
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| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
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| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
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| Lipid receptor |
- LRP: LRP2 (Donnai-Barrow syndrome)
- LRP4 (Cenani Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
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| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR Hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal cell carcinoma syndrome)
- BMPR1A (BMPR1A Juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
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- See also
- cell surface receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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UpToDate Contents
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English Journal
- Expanding the clinical spectrum of phenotypes caused by pathogenic variants in PLOD2.
- Leal GF1,2, Nishimura G3, Voss U4, Bertola DR5,6, Åström E7,8, Svensson J9, Yamamoto GL5,6, Hammarsjö A10,11, Horemuzova E12,13, Papadiogannakis N14, Iwarsson E10,11, Grigelioniene G10,11, Tham E10,11.
- Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.J Bone Miner Res.2017 Nov 27. doi: 10.1002/jbmr.3348. [Epub ahead of print]
- PMID 29178448
- Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.
- Manikkam SA1, Chetcuti K2, Howell KB3,4,5, Savarirayan R5,6, Fink AM7,8,5, Mandelstam SA7,4,8,5,9.
- AJNR. American journal of neuroradiology.AJNR Am J Neuroradiol.2017 Nov 23. doi: 10.3174/ajnr.A5468. [Epub ahead of print]
- PMID 29170271
- Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.
- Bondioni MP1, Pazzaglia UE2, Izzi C3, Di Gaetano G4, Laffranchi F4, Baldi M5, Prefumo F3.
- La Radiologia medica.Radiol Med.2017 Nov;122(11):880-891. doi: 10.1007/s11547-017-0784-0. Epub 2017 Jul 3.
- PMID 28674909
Japanese Journal
- 遺伝子解析により出生前診断した致死性骨異形成症の1症例
- 安永 昌史,永田 秀昭,阿萬 紫,佐藤 昌司,福嶋 恒太郎,中並 尚幸,羽田 明,中野 仁雄
- 日本産科婦人科學會雜誌 54(11), 1514-1518, 2002-11-01
- … We report a case of thanatophoric dysplasia diagnosed by the combination of gene analysis and ultrasonography. … Because the fetus had deformed femoral bones, short-limb dwarfism was suspected. … Restrition analysis and DNA sequencing revealed that the fetal cells obtained by amniocentesis had a single mutation at the nucleotide of codon in FGFR3, concordant with the gene aberration in thanatophoric dysplasia. …
- NAID 110002097819
- Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
- Activation of Statl by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
Related Links
- Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs ...
- Thanatophoric dysplasia (TD) is the most common form of skeletal dysplasia that is lethal in the neonatal period. The term, thanatophoric, derives from the Greek word thanatophorus, which means ... Fibroblast growth ...
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