Zespół dziecka-opony Michelin

Zespół dziecka-opony Michelin[a] (ang. Michelin tire baby syndrome, multiple benign ring-shaped skin creases) – rzadki zespół wad wrodzonych, zawdzięczający swoją niezwykłą nazwę okrężnym głębokim zmarszczkom lub bruzdom na kończynach i często także szyi dziecka, co nadaje im wygląd przywodzący na myśl maskotkę Bibendum z reklam opon samochodowych Michelin. Bruzdy te wydają się mieć związek z nadmiernie wykształconymi fałdami skórnymi w okresie płodowym; wyraźne w dzieciństwie, z czasem zanikają[1]. Inne cechy spotykane u pacjentów z tym zespołem to:

Etiologia schorzenia jest nieznana; stwierdzano aberracje chromosomalne (perycentryczna inwersja 7q[4], delecja chromosomu 11[7]) u pacjentów z fenotypem odpowiadającym temu zespołowi. Hans-Rudolf Wiedemann w 1987 roku zwrócił uwagę na podobieństwo dziecka Ewy wyobrażonego na detalu Drzwi Bernwarda w Katedrze św. Marii w Hildesheimie do dzieci z zespołem dziecka-opony Michelin[3].

Uwagi

  1. ↑ W polskim piśmiennictwie nie ma odpowiednika nazwy tego i wielu innych zespołów wad rozwojowych; podana nazwa jest dosłownym tłumaczeniem nazwy angielskiej.

Przypisy

  1. ↑ Bass, HN, Caldwell, S, Brooks, BS. Michelin tire baby syndrome: familial constriction bands during infancy and early childhood in four generations. „Am J Med Genet”. 45, s. 370-372, 1993. PMID: 8434626. 
  2. ↑ a b Kunze, J, Riehm, H. A new genetic disorder: autosomal-dominant multiple benign ring-shaped skin creases. „Europ J Pediat”. 138, s. 301-303, 1982. PMID: 7128636. 
  3. ↑ a b Wiedemann, H-R. Multiple benign circumferential skin creases on limbs--a congenital anomaly existing from the beginning of mankind. „Am J Med Genet”. 28, s. 225-226, 1987. PMID: 3674112. 
  4. ↑ a b Schnur, RE, Herzberg, AJ, Spinner, H, Kant, JA, Magnusson, M, McDonald-McGinn, D, Rehberg, K, Honig, PJ, Zackai, EH. Variability in the Michelin tire syndrome: a child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q. „J Am Acad Derm”. 28, s. 364-370, 1993. PMID: 8436660. 
  5. ↑ Oku, T, Iwasaki, K, Fujita, H. Folded skin with an underlying cutaneous smooth muscle hamartoma. „Brit J Derm”. 129, s. 606-608, 1993. PMID: 8251362. 
  6. ↑ Leonard, NJ. A second patient with MCA/MR syndrome with multiple circumferential skin creases. „Am J Med Genet”. 112, s. 91-94, 2002. PMID: 12239728. 
  7. ↑ Burgdorf WH. Deletion of chromosome 11 in babies with Michelin Tire syndrome. „Arch Dermatol”. 116. 6, s. 621-2, 1980. PMID: 7377798. 

Linki zewnętrzne

Przeczytaj ostrzeżenie dotyczące informacji medycznych i pokrewnych zamieszczonych w Wikipedii.

Read other articles:

Cempaka (warna)

Cempaka Bunga cempaka wangi muda     Koordinat warnaTriplet hex#FFFFE0sRGBB    (r, g, b)(255, 255, 224)CMYKH   (c, m, y, k)(0, 0, 12, 0)HSV       (h, s, v)(60°, 12%, 100%)SumberX11[1]B: Dinormalkan ke [0–255] (bita)H: Dinormalkan ke [0–100] (ratusan) Cempaka (Inggris: light yellowcode: en is deprecated ) adalah warna yang mewakili warna bunga Cempaka. Di tahun 1987, warna ini dicantumkan sebagai salah-satu warna web X11. Rujukan ^ ...

 

Beach Cricket Tri-Nations series

The XXXX Gold Beach Cricket logoThe XXXX Gold Beach Cricket Tri-Nations series was a beach cricket competition created and sponsored by Australian beer brand XXXX.[1] It was launched on 27 September 2006, and the event coincided with the 2006–07 Ashes series being played in Australia with the first series being played in January 2007. The first series involved cricketing legends from Australia, England and West Indies. It was won by England, who beat Australia in the Grand Final on...

 

Cantika Abigail

Cantika AbigailCantika pada tahun 2018LahirCantika Abigail Santoso12 Juli 1993 (umur 30)Jakarta, IndonesiaKebangsaanIndonesiaAlmamaterUniversitas Pelita HarapanPekerjaanPenyanyi-penulis lagupembawa acara televisiaktrispenyiar radioTahun aktif2008—sekarangOrang tuaJean Pattikawa (ibu)Keluarga Chris Pattikawa (kakek) Rina Hassim (nenek) PenghargaanDaftar penghargaanKarier musikGenreR&Bkontemporer urbanInstrumenVokalLabelSonyArtis terkaitGamaliel Audrey CantikaTanda tangan Canti...

Coler Specialty Hospital

Hospitals in New York City Hospital in New York, United StatesColer Specialty HospitalNYC Health + HospitalsGeographyLocation900 Main Street, New York, New York, United StatesCoordinates40°46′13″N 73°56′32″W / 40.77028°N 73.94222°W / 40.77028; -73.94222OrganizationFundingPublic hospitalTypeSpecialistNetworkNYC Health + HospitalsServicesBeds1,025[1]SpecialityChronic care, physical rehabilitation, geriatrics, HIV/AIDS, Alzheimer's careHistoryOpened193...

 

Matthias Ward

American politician (1805–1861) Matthias WardUnited States Senatorfrom TexasIn officeSeptember 27, 1858 – December 5, 1859Appointed byHardin Richard RunnelsPreceded byJames P. HendersonSucceeded byLouis WigfallMember of the Texas Senatefrom the 1st districtIn officeNovember 13, 1849 – November 3, 1850Preceded byWilliam M. Buckskin WilliamsSucceeded byJoseph H. Burks Personal detailsBorn(1805-10-13)October 13, 1805Elbert County, Georgia, U.S.DiedOctober 5, 1861(1861-10-...

 

Émile Mâle

French art historian Émile Mâle (French: [emil mɑl]; 2 June 1862 – 6 October 1954) was a French art historian, one of the first to study medieval, mostly sacral French art and the influence of Eastern European iconography thereon. He was a member of the Académie française, and a director of the Académie de France à Rome. Biography Mâle was born in Commentry, Auvergne. A pupil at the École normale supérieure, he received his degree in 1886. He taught rhetoric at Saint-Étie...

Paolo Cannavaro

Italian footballer Paolo Cannavaro Cannavaro in 2009Personal informationFull name Paolo CannavaroDate of birth (1981-06-26) 26 June 1981 (age 42)Place of birth Naples, ItalyHeight 1.85 m (6 ft 1 in)Position(s) Centre backYouth career1995–1998 NapoliSenior career*Years Team Apps (Gls)1998–1999 Napoli 2 (0)1999–2006 Parma 92 (4)2001–2002 → Verona (loan) 24 (1)2006–2014 Napoli 236 (8)2014 → Sassuolo (loan) 16 (0)2014–2017 Sassuolo 94 (1)Total 464 (14)Internati...

 

Interbrigades

Participant in the armed conflict in eastern Ukraine For the paramilitary from 1936–1938, see International Brigades. InterbrigadesИнтербригадыLogo of The Other Russia of E. V. LimonovActive6 May 2014 – presentAllegiance Russia  Donetsk People's Republic  Luhansk People's Republic The Other RussiaTypeInfantryPart of LPR People's Militia Zarya Battalion (2014–2015)[citation needed] Motto(s)Yes, death![citation needed]EngagementsWar in Donba...

 

Galilee

Large region mainly located in northern Israel For other uses, see Galilee (disambiguation). Map of the Galilee region Galilee (/ˈɡælɪliː/;[1] Hebrew: הַגָּלִיל, romanized: hagGālīl; Latin: Galilaea;[2] Arabic: الجليل, romanized: al-jalīl) is a region located in northern Israel and southern Lebanon. Galilee traditionally refers to the mountainous part, divided into Upper Galilee (הגליל העליון, ha-galil ha-elyon; الجليل الأع...

1900年美國總統選舉

1900年美國總統選舉 ← 1896 1900年11月6日 1904 → 447張選舉人票獲勝需224張選舉人票投票率73.2%[1] ▼ 6.1 %   获提名人 威廉·麥金利 威廉·詹寧斯·布賴恩 政党 共和黨 民主党 家鄉州 俄亥俄州 內布拉斯加州 竞选搭档 西奧多·羅斯福 阿德萊·史蒂文森一世 选举人票 292 155 胜出州/省 28 17 民選得票 7,228,864 6,370,932 得票率 51.6% 45.5% 總統選舉結果地圖，紅色代表�...

 

Chiasso

Municipality in Ticino, SwitzerlandChiassoMunicipality Coat of armsLocation of Chiasso ChiassoShow map of SwitzerlandChiassoShow map of Canton of TicinoCoordinates: 45°50′N 9°02′E / 45.833°N 9.033°E / 45.833; 9.033CountrySwitzerlandCantonTicinoDistrictMendrisioGovernment • MayorBruno ArrigoniArea[1] • Total5.35 km2 (2.07 sq mi)Elevation230 m (750 ft)Population (31 December 2018)[2] •&#...

 

علم اجتماع الأدب

هذه المقالة بحاجة لصندوق معلومات. فضلًا ساعد في تحسين هذه المقالة بإضافة صندوق معلومات مخصص إليها.Learn how and when to remove this message جزء من سلسلة مقالات حولعلم الاجتماع تاريخ فهرس المواضيع الرئيسية مجتمع عولمة سلوك الإنسان تأثير الإنسان على البيئة هوية الثورات الصناعية 3 / 4 / 5 تعقيد ا...

西遊記大結局之仙履奇緣

本條目存在以下問題，請協助改善本條目或在討論頁針對議題發表看法。 此條目需要編修，以確保文法、用詞、语气、格式、標點等使用恰当。 (2013年8月6日)請按照校對指引，幫助编辑這個條目。（幫助、討論） 此條目剧情、虛構用語或人物介紹过长过细，需清理无关故事主轴的细节、用語和角色介紹。 (2020年10月6日)劇情、用語和人物介紹都只是用於了解故事主軸，輔助�...

 

Etan Thomas

American basketball player (born 1978) Etan ThomasThomas with the Wizards in 2008Personal informationBorn (1978-04-01) April 1, 1978 (age 46)New York City, U.S.NationalityAmericanListed height6 ft 10 in (2.08 m)Listed weight260 lb (118 kg)Career informationHigh schoolBooker T. Washington(Tulsa, Oklahoma)CollegeSyracuse (1996–2000)NBA draft2000: 1st round, 12th overall pickSelected by the Dallas MavericksPlaying career2000–2011PositionCenter / power forwardNum...

 

Guido Weiss

American mathematician (1928–2021) This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: Guido Weiss – news · newspapers · books · scholar · JSTOR (September 2013) (Learn how and when to remove this message) Guido WeissGuido Weiss c. 2011Born(1928-12-29)29 December 1928Trieste, ItalyDied25 December 2021(2021-12-...

Sybra nitida

Sybra nitida Klasifikasi ilmiah Kerajaan: Animalia Filum: Arthropoda Kelas: Insecta Ordo: Coleoptera Famili: Cerambycidae Subfamili: Lamiinae Tribus: Apomecynini Genus: Sybra Spesies: Sybra nitida Sybra nitida adalah spesies kumbang tanduk panjang yang berasal dari famili Cerambycidae. Spesies ini juga merupakan bagian dari genus Sybra, ordo Coleoptera, kelas Insecta, filum Arthropoda, dan kingdom Animalia. Larva kumbang ini biasanya mengebor ke dalam kayu dan dapat menyebabkan kerusakan pad...

 

وزارة السياحة (إسرائيل)

  لمعانٍ أخرى، طالع وزارة السياحة (توضيح). يفتقر محتوى هذه المقالة إلى الاستشهاد بمصادر. فضلاً، ساهم في تطوير هذه المقالة من خلال إضافة مصادر موثوق بها. أي معلومات غير موثقة يمكن التشكيك بها وإزالتها. (أكتوبر 2023) وزارة السياحة (إسرائيل)معلومات عامةالبداية 1964 منصب رئيس ه�...

 

Moving average

Type of statistical measure over subsets of a dataset For other uses, see Moving-average model and Moving average (disambiguation). Smoothing of a noisy sine (blue curve) with a moving average (red curve). In statistics, a moving average (rolling average or running average or moving mean[1] or rolling mean) is a calculation to analyze data points by creating a series of averages of different selections of the full data set. Variations include: simple, cumulative, or weighted forms. Ma...

Raakh

Halaman ini berisi artikel tentang film 1989. Untuk film Bollywood 2010, lihat Raakh (film 2010). Untuk film 2016, lihat Raakh (film 2016). RaakhSutradaraAditya BhattacharyaProduserAsif NoorSangeeth SivanAditya BhattacharyaDitulis olehAditya BhattacharyaNuzhat KhanPemeranAamir KhanSupriya PathakPankaj KapurPenata musikRanjit BarotSinematograferSantosh SivanPenyuntingA. Sreekar PrasadTanggal rilis 21 April 1989 (1989-04-21) Durasi153 menitNegaraIndiaBahasaHindiPendapatankotor₹5,5 ...

 

Rocket U2

Database management system This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: Rocket U2 – news · newspapers · books · scholar · JSTOR (September 2014) (Learn how and when to remove this message) This article focuses too much on specific examples. Please help improve this article by adding sources that evaluate ...