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¿µ¹® acquired immunodeficiency syndrome ÇÑ±Û ÈÄõ¸é¿ª°áÇÌÁõÈıº, ¿¡ÀÌÁî
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  Àΰ£¸é¿ª°áÇ̹ÙÀÌ·¯½º(HIV)¿¡ ÀÇÇÏ¿© ¸é¿ª ¼¼Æ÷°¡ ÆÄ±«µÊÀ¸·Î½á ÀÎüÀÇ ¸é¿ª´É·ÂÀÌ ±Øµµ·Î ÀúÇϵǾ´¿øÃ¼¿¡ ´ëÇÏ¿© ¹«¹æºñ »óÅ¿¡ À̸£´Â º´. ¿¡ÀÌÁî ¹ÙÀÌ·¯½ºÀÇ °¨¿°À¸·Î »ý±â¸ç, 1981³â ¹Ì±¹¿¡¼­ Ã³À½ º¸°íµÇ¾ú´Ù. ÃÖÃÊ °¨¿°À¸·ÎºÎÅÍ Áõ»óÀÌ ³ªÅ¸³ª±â±îÁö´Â Æò±Õ 10³â Á¤µµ °É¸®¸ç »ç¸Á·üÀÌ ´ë´ÜÈ÷ ³ô´Ù. ¼ºÀû Á¢ÃË, ¿À¿° ÁÖ»ç±â »ç¿ë, ¿À¿° Ç÷¾× ¹× Ç÷¾× Á¦Á¦ »ç¿ë, ¿¡ÀÌÁî »ê¸ð·ÎºÎÅÍ ¼öÁ÷°¨¿° µûÀ§¿¡ ÀÇÇÏ¿© °¨¿°µÈ´Ù. °¨¿° ÈÄ Àϰú¼ºÀ¸·Î °¨±â¿Í °°Àº Áõ»óÀ» º¸À̸砹ÙÀÌ·¯½ºÇ÷ÁõÀ¸·Î µÇÁö¸¸ ¹ÙÀÌ·¯½º´Â °¨¼ÒµÇ°í 6~8ÁÖ ÈÄ¿¡´Â Ç×ü°¡ ¾ç¼ºÀ¸·Î µÈ´Ù. 6~10³â Á¤µµÀÇ ¹«ÁõÈļº º¸±Õ±â°£À» Áö³ª¼­ ¿¡ÀÌÁî°ü·ÃÁõÈıº(AIDS related syndrome)À¸·Î µÈ´Ù. ÀúÇ×·ÂÀÇ °¨¼Ò, ¸²ÇÁÀýºñ´ë, Ã¼Áß°¨¼Ò, ¹ß¿­, ¸¸¼º¼³»ç°¡ À̾îÁø´Ù. ±× ÈÄ ¿¡ÀÌÁî·Î µÇ¸ç, ÆóÆ÷ÀÚÃæÆó·Å µîÀÇ ¿øÃ溴, Ä­µð´Ù µîÀÇ Áø±ÕÁõ, Ç츣Æä½º¹ÙÀÌ·¯½º±º µîÀÇ ±âȸ°¨¿°ÀÌ À̾îÁø´Ù. ¶ÇÇÑ Ä«Æ÷½ÃÀ°Á¾, ¸²ÇÁÁ¾ µîÀ» º´¹ßÇØ¼­ »ç¸ÁÇÑ´Ù. ¹ÙÀÌ·¯½ºÀÇ ³úÁ¶Á÷³» Áõ½ÄÀ¸·Î Ä¡¸Å¸¦ ÀÏÀ¸Å³ ¼öµµ ÀÖ´Ù. HIV-1Àº 10³â°£¿¡ »ç¸Á·üÀÌ 90%, HIV-2´Â 10%ÀÌ´Ù.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 6
  • ¿µ¹®
    ÇѱÛ
  • anxiety syndrome
    ºÒ¾ÈÁõÈıº
  • aortic arch syndrome
    ´ëµ¿¸ÆÈ°ÁõÈıº, ´ëµ¿¸Æ±ÃÁõÈıº
  • apallic syndrome
    ´ë³ú°ÑÁú»ó½ÇÁõÈıº, ´ë³úÇÇÁú»ó½ÇÁõÈıº
  • Apert syndrome
    ¾ÆÆä¸£ÁõÈıº
  • Asherman¡¯s syndrome
    ¾Æ¼Å¸¸ÁõÈıº
  • auriculotemporal syndrome
    ±Ó¹ÙÄû°üÀÚÁõÈıº, À̰³ÃøµÎ½Å°æÁõÈıº
  • Ayerza syndrome
    ¾Æ¿¹¸£»çÁõÈıº
  • acquired immune deficiency syndrome
    ÈÄõ¸é¿ª°áÇÌÁõÈıº, ¿¡ÀÌÁî
  • acquired immunodeficiency syndrome
    ÈÄõ¸é¿ª°áÇÌÁõÈıº, ¿¡ÀÌÁî
  • acute brain syndrome
    ±Þ¼º³úÁõÈıº
  • acute respiratory distress syndrome
    ±Þ¼ºÈ£Èí°ï¶õÁõÈıº
  • adrenogenital syndrome
    ºÎ½Å»ý½Ä±âÁõÈıº
  • adult respiratory distress syndrome
    ¼ºÀÎÈ£Èí°ï¶õÁõÈıº
  • advanced sleep phase syndrome
    ÀüÁø¼ö¸éÀ§»óÁõÈıº
  • afferent loop syndrome
    µéâÀÚÁõÈıº
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 4 ÆäÀÌÁö: 6
  • ¿µ¹®
    ÇѱÛ
  • withdrawal syndrome
    ±Ý´ÜÁõÈıº
  • Wolff-Parkinson White syndrome
    ¿ùÇÁÆÄŲ½¼È­ÀÌÆ®ÁõÈıº
  • WPW syndrome
    (¢¡Woff Parkinson White syndrome) ¿ùÇÁÆÄŲ½¼È­ÀÌÆ®ÁõÈıº
  • X syndrome
    ÁõÈıº¿¢½º
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 6
  • ¿µ¹®
    ÇѱÛ
  • radiation
    ¹æ»ç¼±, ¹æ»ç, ºÎê»ì
  • radiation oncologist
    ¹æ»ç¼±Á¾¾çÀÇ
  • radiation-induced
    ¹æ»ç¼±À¯¹ß-
  • radiation resistance
    ¹æ»ç¼±ÀúÇ×
  • radiation risk
    ¹æ»ç¼±À§Çèµµ
  • radiation safety
    ¹æ»ç¼±¾ÈÀü
  • radiation shield
    ¹æ»ç¼±º¸È£±¸, ¹æ»ç¼±Â÷Æó
  • radiation sickness
    ¹æ»ç¼±º´
  • radiation therapy
    ¹æ»ç¼±¿ä¹ý
  • radiation threshold
    ¹æ»ç¼±¹®ÅÎ
  • radiation thyroiditis
    ¹æ»ç¼±¹æÆÐ»ù¿°, ¹æ»ç¼±°©»ó»ù¿°
  • radiation sensitivity test
    ¹æ»ç¼±¹Î°¨µµ°Ë»ç
  • reflected radiation
    ¹Ý»ç¹æ»ç¼±
  • relative biologic biologic effectiveness radiation
    »ó´ë»ý¹°ÇÐÀûÈ¿°ú
  • residual radiation
    ÀÜ·ù¹æ»ç¼±
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 6
  • ¿µ¹®
    ÇѱÛ
  • radiation fluctuation
    º¹»ç¿äµ¿.
  • radiation glaucoma
    ¹æ»ç¼±³ì³»Àå
  • radiation hazard
    ¹æ»ç¼±ÀåÇØ
  • radiation hormesis
    ¹æ»ç¼± È£¸£¸Þ½Ã½º
  • radiation induced cancer
    ¹æ»ç¼±À¯¹ß¾Ï
  • radiation interaction
    ¹æ»ç¼± »óÈ£ÀÛ¿ë
  • radiation leukemia
    ¹æ»ç ¹æ»ç¼±¹éÇ÷º´(Û¯ÞÒàÊÛÜúìÜ»).
  • radiation leukemia
    ¹æ»ç¼±¹éÇ÷º´(Û¯ÞÒ Û¯ÞÒàÊÛÜúìÜ»)
  • radiation loss
    ¹æ»ç¼±¼Õ½Ç
  • radiation monitoring
    ¹æ»ç¼±°¨½Ã
  • radiation morbidity scoring criteria
    ¹æ»ç¼±ÀÌȯ°è»êÁ¡±âÁØ
  • radiation mucositis
    ¹æ»ç¼±Á¡¸·¿°
  • radiation myelitis
    ¹æ»ç¼±Ã´¼ö¿°(Û¯ÞÒàÊô±âÐæú).
  • radiation myelitis
    ¹æ»ç¼±Ã´¼ö¿°(Û¯ÞÒàÊô±âÐæú)
  • radiation myelitis
    ¹æ»ç¼±Ã´¼ö¿°
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 6
  • ¿µ¹®
    ÇѱÛ
  • proton radiation therapy
    ¾çÀÚ¼±Ä¡·á
  • protraction radiation
    ¿¬À广»ç¼±Á¶»ç
  • radiation
    ¹æ»ç(¼±)(Û¯ÞÒàÊ), º¹»ç(ÜßÞÒ).
  • radiation
    ¹æ»ç¼±(Û¯ÞÒàÊ),¹æ»ç(Û¯ÞÒ),¹æ¼±(Û¯àÊ)
  • radiation (cosmic ray)
    ¹æ»ç¼±(¿ìÁÖ¼±)
  • radiation absorbed dose
    ¹æ»ç¼±Èí¼ö¼±·®
  • radiation alopecia
    ¹æ»ç¼± Å»¸ð(Áõ)
  • radiation anemia
    ¹æ»ç¼±¼º ºóÇ÷(Û¯ÞÒàÊàõ Þ¸úì).
  • radiation beam
    ¹æ»ç¼±ºö
  • radiation biology
    ¹æ»ç¼±»ý¹°ÇÐ
  • radiation brain necrosis
    ¹æ»ç¼±³ú±«»ç
  • radiation burn
    ¹æ»ç¼±È­»ó
  • radiation cancer
    ¹æ»ç¼± ¾Ï
  • radiation carcinogenicity
    ¹æ»ç¼± ¹ß¾Ï¼º
  • radiation carditis
    ¹æ»ç¼±½É¿°
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 6
  • ¿µ¹®
    ÇѱÛ
  • radiation hazard
    ¹æ»ç¼±Àå¾Ö
  • radiation induced cancer
    ¹æ»ç¼±À¯¹ß¾Ï
  • radiation injury
    ¹æ»ç¼±¼Õ»ó
  • radiation measuring instrument
    ¹æ»ç¼±ÃøÁ¤±â(ÀåÄ¡)
  • radiation monitor
    ¹æ»ç¼±¸ð´ÏÅÍ
  • radiation necrosis
    ¹æ»ç¼±±«»ç
  • radiation nephritis
    ¹æ»ç¼±½Å¿°
  • radiation pneumonitis
    ¹æ»ç¼±Æó·Å
  • radiation power
    ¹æ»ç·Â
  • radiation protection
    ¹æ»ç¼±¹æ¾î
  • radiation resistance
    ¹æ»ç¼±ÀúÇ×
  • radiation risk
    ¹æ»ç¼±À§ÇØ, ¹æ»ç¼±À§Çè
  • radiation sensitivity
    ¹æ»ç¼±°¨¼ö¼º
  • radiation shield
    ¹æ»ç¼±Â÷Æó
  • radiation sickness
    ¹æ»ç¼±Áúȯ
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 6
MAS magic angle spinning; Manifest Anxiety Scale; maximum average score; McCune-Albright syndrome; mecon...
MDS Master of Dental Surgery; maternal deprivation syndrome; medical data screening; medical data system...
OHS obesity hypoventilation syndrome; occipital Horn syndrome; occupational health service; ocular histo...
PLS Papillon-Lefevre syndrome; polydactyly-luxation syndrome; preleukemic syndrome; primary lateral scle...
PMS patient management system; perimenstrual syndrome; periodic movements during sleep; phenazine methos...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 6
XRT Radiation therapy
RFR Radiofrequency Radiation
3-DCRT Three-dimensional conformal radiation therapy
UVR UV radiation
UVB Ultraviolet B radiation
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 6
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • adrenal virilizing syndrome
    ºÎ½Å¼º ³²¼ºÈ­ ÁõÈıº
  • adrenogenital syndrome
    ºÎ½Å ¼º±â ÁõÈıº
    1. ºñÁ¤»óÀ¸·Î ´Ù·®ÀÇ ¾Èµå·ÎÁ¨¼ºÀÇ ½ºÅ×·ÎÀ̵å, ƯÈ÷ µðÇÏÀ̵å·Î ¿¡ÇǾȵå·Î½ºÅ×·ÐÀÌ ºÎ½ÅÀ¸·ÎºÎÅÍ ºÐºñµÇ¾î ±× °á°ú ³²¾Æ¿¡¼­´Â Á¶¼÷Áõ, ¿©¾Æ¿¡¼­´Â ³²¼ºÈ­¸¦ ÀÏÀ¸Å²´Ù. °¡Àå ÈçÇÑ ¿øÀÎÀÌ 21?-hydroxylaseÀÇ ¼±Ãµ¼º °áÇÌ. ¸Å¿ì µå¹°°Ô »ý¸íÀ» ÀÒ°Ô µÇ´Â °æ¿ì°¡ Àִµ¥ ÀÌ´Â 2?-dehydroxylaseÀÇ ¿ÏÀü °áÇÌÀÌ ¿øÀÎÀÌ´Ù. 2. ºÎ½Å ÇÇÁúÀÇ ±â´É Ç×Áø¿¡ ÀÇÇÑ ÁõÈıºÀ¸·Î ¿©¼º¿¡¼­´Â ÀϹÝÀûÀ¸·Î Ãâ»ý ½Ã¿¡ °¡¼º ¹ÝÀ½¾ç ³²¼ºÈ­°¡ ÀÖ°í, ³²¼º¿¡¼­´Â ¼ºÀû Á¶¼÷À» º¸À̳ª »ýÈÄ 3-4³â Àü¿¡´Â ÃâÇöÇÏÁö ¾Ê´Â´Ù. À̵é ÀÓ»ó ¼Ò°ßÀº ÄÚ¸£Æ¼¼ÕÀÇ »ý»ê °áÇ̰ú ¾Èµå·Î°ÕÀÇ »ý»ê °úÀ׿¡ ÀÇÇÏ¿© ³ªÅ¸³­´Ù.
  • adrenosympathetic syndrome
    ºÎ½Å ±³°¨½Å°æ ÁõÈıº
    Àϰú¼º °íÇ÷¾Ð, ´ç´¢, ½É¹Ú ±Þ¼Ó, ¾È»öº¯È­, µÎÅë, ±¸±â, ±¸Åä µîÀÇ ¾Æµå·¹³¯¸° Áßµ¶À» ¿¬»óÄÉ ÇÏ´Â ÁõÈıºÀ¸·Î, ºÎ½Å ¼öÁúÀÇ Å©·Ò ģȭ ¼¼Æ÷Á¾¿¡¼­ º¼ ¼ö ÀÖ´Ù.
  • adult respiratory distress syndrome
    ¼ºÀμº È£Èí°ï¶õ ÁõÈıº
    ¿Ü»ó ¸çÄ¥ ÈÄ¿¡ ¹ß»ýÇÏ´Â °©ÀÛ½º·¯¿î Æó °£Áú ¹× ÆóÆ÷ÀÇ ºÎÁ¾. ÀÌ´Â ³ú ¼Õ»ó ȤÀº Àú»ê¼ÒÁõ¿¡ ÀÇÇØ »ý±â´Â °ú°ÝÇÑ ±³°¨½Å°æ°è Ç×Áø ¶Ç´Â ¸ð¼¼Ç÷°ü Åõ°ú¼ºÀÇ Áõ°¡°¡ ¿øÀÎÀ¸·Î »ý°¢µÈ´Ù.
  • aeroadaptation syndrome
    Ç×°ø ¼øÀÀ ÁõÈıº
  • Aicardi's syndrome
    ¿¡Ä«¸£µð ÁõÈıº
    ¿©¾Æ Á¥¸ÔÀÌ¿¡ ³ªÅ¸³ª´Â ÁõÈÄ·Î ³ú·®Ã¼ÀÇ ¹«¹ßÀ°, »ê¹ßÀûÀÎ ¸Æ¶ô¸· ¸Á¸· º´º¯, ±ÙÀ° °æ·Ã°ú ±äÀ强 Á¤½Å °æ·Ã, Á¤½Å ¹ßÀ° Áöü°¡ Ư¡ÀÌ´Ù.
  • Albright-McCune-Sternberg syndrome
    ¾Ëºê¶óÀÌÆ® ¸ÆÄï ½ºÅϹö±× ÁõÈıº
  • Alezzandrini's syndrome
    ¾Ë·¹Àܵ帮´Ï ÁõÈıº
    ÀÏÃø¼ºÀÇ º¯¼º ¸Á¸·¿°¿¡ °âÇÏ¿© °ðÀÌ¾î µ¿Ãø¿¡ ¹é¹Ý ¹× ¹é¸ðÁõÀÌ »ý±â°í ³­Ã»µµ ÀÖÀ» ¼ö ÀÖ´Ù.
  • Alice in Wonderland syndrome
    ÀÌ»óÇÑ ³ª¶óÀÇ ¾Ù¸®½º ÁõÈıº
    ÀÌÀÎÁõ, ½Åü»óÀÇ Àå¾Ö, ½Ã°£ È帧¿¡ ´ëÇÑ Áö°¢ÀÇ º¯È­ ±×¸®°í ±âŸ ¸Á»óÀ̳ª Âø°¢ µîÀ» ³ªÅ¸³»´Â ÀÏÁ¾ÀÇ ¸Á»ó »óÅÂ. Á¤½Å ºÐ¿­Áõ, °£Áúº´, ÆíµÎÅë, ³ú µÎÁ¤¿±ÀÇ Áúȯ, ÃÖ¸é ÀÌÀü »óÅ ¶Ç´Â ȯ°¢Á¦¸¦ »ç¿ëÇßÀ» ¶§ µî¿¡¼­ º¼ ¼ö ÀÖ´Ù.
  • Alport's syndrome
    ¾ËÆ÷Æ® ÁõÈıº
    ÁøÇ༺ °¨°¢ ½Å°æ¼º ³­Ã», ÁøÇ༺ ½Å¿ì½Å¿° ¶Ç´Â »ç±¸Ã¼ ½Å¿°, ¶§·Î´Â ´«ÀÇ Àå¾Ö¸¦ µ¿¹ÝÇÏ´Â À¯Àü¼º ÁúȯÀ¸·Î¼­ »ó¿°»öü¼º ¿ì¼º ÇüÁú·Î À¯ÀüµÈ´Ù.
  • Alström's syndrome
    ¾Ë½ºÆ®·Ý ÁõÈıº
    »ö¼Ò¼º ¸Á¸·¿°°ú ¾ÈÁø, Á¶±â Áß½É¿Í ½Ã·Â »ó½Ç, ³­Ã», ºñ¸¸ ¹× ´ç´¢º´À» ³ªÅ¸³»´Â ¼±Ãµ¼º ÁõÈıº.
  • alveolar hypoventilation syndrome
    ÆóÆ÷ Àúȯ±â ÁõÈıº
  • alveolar-capillary block syndrome
    ÆóÆ÷-¸ð¼¼Ç÷°ü Â÷´Ü ÁõÈıº
  • amelo-cerebro-hypohidrotic syndrome
    ¿¡³ª¸á-´ë³ú-¶¡°ú¼Ò ÁõÈıº
  • amphorometallic syndrome
    °øµ¿ ±Ý¼Ó¼º ÁõÈıº
    Æó ÇãÅ» ¼ö¼ú ÈÄ ³ªÅ¸³ª´Â È£ÈíÀ½ÀÇ °øÈ£¼º, ¿µÀ½¼º ÁõÈıº.
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 6
optic radiation The massive, fanlike fibre system passing from the lateral geniculate body of the thalamus to the visual cortex (striate or calcarine cortex, area 17 of Brodmann); the fibres follow the retrolenticular and sublenticular limbs of the internal capsule into the corona radiata but they curve back along the lateral wall of the temporal and occipital horns of the lateral ventricle to the striate cortex on the medial surface and pole of the occipital lobe.
Synonym: radiatio optica, geniculocalcarine radiation, geniculocalcarine tract, Gratiolet's fibres, Gratiolet's radiation, occipitothalamic radiation, Wernicke's radiation.
(05 Mar 2000)
electromagnetic radiation <physics> Radiation (such as radio waves, microwaves, infrared, visible light, ultraviolet, X-rays, and gamma rays) which consists of associated, interacting electric and magnetic field waves which travel at the speed of light.
All forms of electromagnetic radiation can be transmitted through vacuum. Electromagnetic waves in plasmas are generally more complex in their behaviour, depending on their frequency.
(09 Oct 1997)
excitation radiation <radiobiology> Line radiation (at characteristic frequencies / wavelengths) as a result of the promotion of electrons or other constituent particles of a larger system to excited states, and the subsequent de-excitation of these states by radiative transitions.
(09 Oct 1997)
external radiation Radiation therapy that uses a machine located outside the body to aim high-energy rays at the cancer.
(16 Dec 1997)
external radiation therapy Radiation therapy using a machine located outside the body to aim high-energy rays at a tumour.
(12 Dec 1998)
ultraviolet radiation <physics> Invisible light, next to visible light in the electromagnetic spectrum. The most common source of ultraviolet radiation is the sun.
Acronym: UV
(16 Dec 1997)
K-radiation Usually a very penetrating form of x-radiation excited by cathode rays (high speed electrons) impinging upon a metal anode such as tungsten; the energy of the radiation is a function of the binding energy of the K-shell electrons of the metal anode.
(05 Mar 2000)
L-radiation An x-radiation of slight penetrating power excited by cathode rays (high speed electrons) impinging on a metal anode; the energy of the radiation is a function of the binding energy of the L-shell electrons of the metal anode.
(05 Mar 2000)
Aarskog-Scott syndrome A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms.
Synonym: Aarskog-Scott syndrome.
(05 Mar 2000)
Aarskog syndrome <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum.
They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance.
Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity.
Inheritance: Sex-influenced autosomal dominant form, also X-linked form.
(05 Aug 1998)
abdominal muscle deficiency syndrome <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear.
(05 Mar 2000)
abstinence syndrome <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body.
(05 Mar 2000)
Achard syndrome <syndrome> Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear.
(05 Mar 2000)
Achard-Thiers syndrome <syndrome> One form of a virilizing disorder of adrenocortical origin in women, characterised by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria.
(05 Mar 2000)
Achenbach syndrome <syndrome> Haematoma of the finger pad with accompanying oedema; of unknown cause in the absence of disturbances in blood coagulation mechanisms.
(05 Mar 2000)
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