Sponastrime displazi - Sponastrime dysplasia

Tasnifi	D. ICD -10: 77.7-savol; OMIM: 271510; MeSH: C535786;
Tashqi manbalar	Bolalar uyi: ORPHA: 93357;

Sponastrime displazi
	Avtosomal retsessiv naqsh bu holatning meros qilib olish usuli hisoblanadi
Mutaxassisligi	Tibbiy genetika
Sabablari	TONSL genidagi mutatsiyalar

Bu yuz va skelet anormalliklari bilan ajralib turadigan noyob holat.^[1]^[2]

Belgilari va alomatlari

Ushbu holatning asosiy xususiyatlari skelet va yuzda ko'rinadi.^[3]

Yuz xususiyatlari:

Makrosefali
Frontal boshliq
O'rta gipoplaziya
Depressiya qilingan burun ildizi
Kichkina burilgan burun
Prognatizm

Suyak xususiyatlari:

Qisqartirilgan oyoq-qo'llar (pastki oyoqlarda aniqroq)
Qisqa bo'yli
Progressiv coxa vara

Rentgen nurida:

Anormal vertebra tanalari (ayniqsa, bel mintaqasida)
Kapital femoral epifizlarning avaskulyar nekrozi
Bosilgan metafizlar
Umumiy yumshoq osteoporoz
Karpal suyaklarining kechiktirilgan suyaklanishi

Boshqa bog'liq sharoitlar:

Ular har xil^[4]

Katarakt
Gipogammaglobulinemiya
Intellektual nogironlik
Qisqa tish ildizlari
Subglottik stenoz
Traxeobronxamolatsiya

Genetika

Ushbu holat Tonsoku shunga o'xshash, DNKni tuzatuvchi oqsildagi mutatsiyalar bilan bog'liq (TONSL ) gen.^[5]^[6] Ushbu gen uzun qo'lda joylashgan xromosoma 8 (8q24.3). Ushbu gen, shuningdek, sifatida tanilgan NFKBIL2.^{[iqtibos kerak ]}

Patofiziologiya

Bu tushunilmaydi. TONSL geni mahsuloti genomni tiklashda ishtirok etadigan ko'rinadi.^[7]

Tashxis

Bunga odatiy yuz va skelet xususiyatlari mavjud bo'lganda shubha qilish mumkin. TONSL genini sekanslash orqali tasdiqlanadi.^{[iqtibos kerak ]}

Differentsial diagnostika

Immunitet tanqisligi bilan bog'liq bo'lgan qisqa oyoqli mitti sindromi.^{[iqtibos kerak ]}

Davolash

Ushbu holatni davolashning o'ziga xos usuli yo'q. Menejment qo'llab-quvvatlaydi.^{[iqtibos kerak ]}

Epidemiologiya

Ushbu holat kamdan-kam uchraydi, chunki adabiyotda 100 dan kam holatlar qayd etilgan.^{[iqtibos kerak ]}

Tarix

Ushbu holat birinchi marta 1983 yilda tasvirlangan.^[8]

Adabiyotlar

^ Kuper XA, Krou J, Butler MG (2000) Sponastrime displazi: 11 yoshli bolaning hisoboti va adabiyotlarni ko'rib chiqish. Am J Med Genet 92: 33-39
^ Gripp KW, Jonson C, Skott CI, Jr, Nikolson L, Bober M, Butler MG, Shou L, Gorlin RJ (2008) SPONASTRIME displaziyasining fenotipini qisqa tish ildizlari, gipogammaglobulinemiya va kataraktlarni kengaytirish. Am J Med Genet 146A: 468-473
^ Langer LO Jr, Beals RK, LaFranchi S, Scott CI, Jr, Sockalosky JJ (1996) Sponastrime displazi: beshta yangi holat va ilgari nashr etilgan to'qqizta ishni ko'rib chiqish. Am J Med Genet 63: 20-27. Izoh: Erratum: Am. J Med Genet 65: 94 faqat 1996 yil
^ Slaney SF, Hall CM, Atherton DJ, Winter RM (1999) Spondiloepimetafiz displazi, ekzema va gipogammaglobulinemiyaning yangi sindromi. Klinik Dismorf 8: 79-85
^ Chang HR, Cho SY, Lee JH, Li E, Seo J, Li HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Li C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ , Ikegawa S, Vang Z, Xiggs MR, Styuart GS, Jung E, Li MS, Park JH, Li EA, Kim H, Myung K, Jeon V, Li K, Kim D, Kim OH, Choi M, Li HW, Kim Y, Cho TJ (2019) TONSLdagi gipomorfik mutatsiyalar SPONASTRIME displaziyasini keltirib chiqaradi. Am J Hum Genet 104 (3): 439-453
^ Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christianen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA. , Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rozenfeld JA, Postlethwait J, Westerfield M, Dikkinson ME, Beaetet AL, Ranza E, Xuber S, Kormye-Deyr V, Shen V, Mao R, Xeni JD, Orange JS; Vashington universiteti Mendeliyalik genomika markazi; Aniqlanmagan kasalliklar tarmog'i, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M30, Cohn DH31, Krakow D32, Jackson AP33, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B (2019) TONSLdagi ikki-allelik variantlari SPONASTRIME displazi va skelet displazi fenotiplari spektrini keltirib chiqaradi. Am J Hum Genet 104 (3): 422-438
^ O'Donnell L, Panier S, Vildenxeyn J, Tkach JM, Al-Hakim A, Landri MC, Eskribano-Diaz S, Szilard RK, Yang JT, Munro M, Kenni MD, Kolas NK, Chjan V, Harding SM, Ylanko J , Mendez M, Mullin M, Sun T, Xabermann B, Datti A, Bristov RG, Gingras AC, Tyers MD, Brown GW, Durocher D (2010) MMS22L-TONSL kompleksi replikatsiya stressidan va gomologik rekombinatsiyadan xalos bo'lishga vositachilik qiladi. Mol hujayrasi 40 (4): 619-631
^ Fanconi CI, Giedion A, Prader A. (1983) Sponastrime displazi: egar burun, umurtqa pog'onasi o'zgarishi va metafizial striatsiya bilan oilaviy qisqa oyoqli mitti. Helv Paediat Acta 38: 267-280

[Cooper2000-1] Kuper XA, Krou J, Butler MG (2000) Sponastrime displazi: 11 yoshli bolaning hisoboti va adabiyotlarni ko'rib chiqish. Am J Med Genet 92: 33-39

[Gripp2008-2] Gripp KW, Jonson C, Skott CI, Jr, Nikolson L, Bober M, Butler MG, Shou L, Gorlin RJ (2008) SPONASTRIME displaziyasining fenotipini qisqa tish ildizlari, gipogammaglobulinemiya va kataraktlarni kengaytirish. Am J Med Genet 146A: 468-473

[Langer1996-3] Langer LO Jr, Beals RK, LaFranchi S, Scott CI, Jr, Sockalosky JJ (1996) Sponastrime displazi: beshta yangi holat va ilgari nashr etilgan to'qqizta ishni ko'rib chiqish. Am J Med Genet 63: 20-27. Izoh: Erratum: Am. J Med Genet 65: 94 faqat 1996 yil

[Slaney1999-4] Slaney SF, Hall CM, Atherton DJ, Winter RM (1999) Spondiloepimetafiz displazi, ekzema va gipogammaglobulinemiyaning yangi sindromi. Klinik Dismorf 8: 79-85

[Chang2019-5] Chang HR, Cho SY, Lee JH, Li E, Seo J, Li HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Li C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ , Ikegawa S, Vang Z, Xiggs MR, Styuart GS, Jung E, Li MS, Park JH, Li EA, Kim H, Myung K, Jeon V, Li K, Kim D, Kim OH, Choi M, Li HW, Kim Y, Cho TJ (2019) TONSLdagi gipomorfik mutatsiyalar SPONASTRIME displaziyasini keltirib chiqaradi. Am J Hum Genet 104 (3): 439-453

[Burrage2019-6] Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christianen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA. , Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rozenfeld JA, Postlethwait J, Westerfield M, Dikkinson ME, Beaetet AL, Ranza E, Xuber S, Kormye-Deyr V, Shen V, Mao R, Xeni JD, Orange JS; Vashington universiteti Mendeliyalik genomika markazi; Aniqlanmagan kasalliklar tarmog'i, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M30, Cohn DH31, Krakow D32, Jackson AP33, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B (2019) TONSLdagi ikki-allelik variantlari SPONASTRIME displazi va skelet displazi fenotiplari spektrini keltirib chiqaradi. Am J Hum Genet 104 (3): 422-438

[O'Donnell2010-7] O'Donnell L, Panier S, Vildenxeyn J, Tkach JM, Al-Hakim A, Landri MC, Eskribano-Diaz S, Szilard RK, Yang JT, Munro M, Kenni MD, Kolas NK, Chjan V, Harding SM, Ylanko J , Mendez M, Mullin M, Sun T, Xabermann B, Datti A, Bristov RG, Gingras AC, Tyers MD, Brown GW, Durocher D (2010) MMS22L-TONSL kompleksi replikatsiya stressidan va gomologik rekombinatsiyadan xalos bo'lishga vositachilik qiladi. Mol hujayrasi 40 (4): 619-631

[8] Fanconi CI, Giedion A, Prader A. (1983) Sponastrime displazi: egar burun, umurtqa pog'onasi o'zgarishi va metafizial striatsiya bilan oilaviy qisqa oyoqli mitti. Helv Paediat Acta 38: 267-280

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Tasnifi	D. ICD -10: 77.7-savol OMIM: 271510 MeSH: C535786
Tashqi manbalar	Bolalar uyi: ORPHA: 93357