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"lazy bladder syndrome"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
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¿µ¹® Horner syndrome ÇÑ±Û È£¸£³ÊÁõÈıº
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  ±³°¨½Å°æ°æ·ÎÀÇ Àå¾Ö·Î »ý±â´Â º´ÀÌ´Ù. ±³°¨½Å°æÀº ÀÚÀ²½Å°æÀÇ Çϳª·Î ¿Â¸ö¿¡ ºÐÆ÷¸¦ ÇÑ´Ù. Æ¯È÷ ¾ó±¼ÂÊ¿¡´Â ´«²¨ÇÃÀ» ¿Ã¸®´Â ±ÙÀ°°ú ¶¡»ù¿¡ ºÐÆ÷Çϰí ÀÖ´Ù. À̿͠°°Àº ±³°¨½Å°æÀÇ ÀÛ¿ëÀ¸·Î ´«²¨Ç®À» Á¤»óÀûÀ¸·Î ¿Ã¸®°í ¾ó±¼¿¡ ¶¡ÀÌ ³ª¿À°Ô µÈ´Ù. ±× ¿Ü¿¡µµ ´«ÀÇ ºûÀÇ ¾çÀ» Á¶ÀýÇϴ ȫ並 ¼öÃà½Ã۴ ±ÙÀ°¿¡ ºÐÆ÷ÇØ¼­ ±× ÀÛ¿ëÀ¸·Î ´«ÀǠȫä°¡ ¼öÃàÇÏ¿© µ¿°øÀÌ Ä¿Áö°Ô µÈ´Ù. ±³°¨½Å°æÀº ±× ±â¿øÀÌ ´ë³ú¼Ó¿¡ Á¸ÀçÇϴ ½Ã»óÇϺζó´Â °÷À̰í À̰÷¿¡¼­ ½ÃÀÛÇÑ ±³°¨½Å°æÀº Ã´¼ö¸¦ Å¸°í ³»·Á¿Í¼­ ¸ñºÎÀ§¿¡¼­ Ã´¼ö¸¦ ºüÁ®³ª¿Í¼­ ±³°¨½Å°æÀ» Áٱ⸦ Çü¼ºÇÏ¿© ´Ù½Ã ³ú·Î °¡´Â Ç÷°üÀ» µû¶ó¼­ ¾ó±¼ÂÊÀ¸·Î °¡°ÔµÈ´Ù. ¸¸¾à ÀÌ ±³°¨½Å°æÀÇ ÁÖÇàºÎÀ§¿¡ º´º¯ÀÌ »ý±â¸é ±×ÂÊÀÇ ¾ó±¼¿¡ ±³°¨½Å°æÀÌ Â÷´ÜµÇ¹Ç·Î º´ÅÍÂÊÀÇ ´«ÀÇ ´«²¨Ç®ÃÄÁü, Ãൿ ±×¸®°í º´º¯Ãø ¾ó±¼ºÎÀÇ ¶¡ÀÌ ³ªÁö ¾Ê´Â °Í µîÀÇ Áõ»óÀ» ³ªÅ¸³ª°Ô µÈ´Ù. ÀÌ·± Çö»óÀ» È£¸£³ÊÁõÈıºÀ̶ó°í ÇÑ´Ù. À̰ÍÀº ¿©·¯ °¡Áö º´¿¡¼­ ³ªÅ¸³¯ ¼ö°¡ Àִµ¥ ³ú³ª Ã´¼öÀÇ ÁúȯÁß¿¡¼­ ÀÌ ±³°¨½Å°æ·Î¸¦ ¾Ð¹ÚÇϰųª Ä§¹üÇϴ º´¿¡¼­ »ý±æ ¼öµµ ÀÖÀ¸¸ç, ¶Ç´Â Æó¾ÏÀ̠ô¼ö¿¡¼­ ºüÁ®³ª¿Í ¸ñºÎºÐ¿¡¼­ ÀÌ·é ±³°¨½Å°æÀÇ Áٱ⸦ ´©¸¦ °æ¿ì¿¡µµ »ý±æ ¼öµµ ÀÖ´Ù.
¿µ¹® respiratory distress syndrome(RDS) ÇÑ±Û È£Èí°ï¶õÁõÈıº
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  ÆóÆ÷¿Í Æó¸ð¼¼Ç÷°ü »çÀÌ¿¡ ºÎÁ¾À¸·Î ÀÎÇÑ È®»ê´É °¨¼Ò·Î È£Èí°ï¶õ°ú Ã»»öÁõÀ» º¸À̴ »óÅ·Π°¨¿°, ¼ö¼ú, ¿Ü»ó µî ¸ðµç Á¾·ùÀÇ ½ºÆ®·¹½º»óȲ¿¡¼­ ¹ß»ýÇÒ ¼ö ÀÖ´Ù. Ä¡·á´Â ¼±Çà ¿äÀÎÀÇ ±³Á¤°ú ÀûÀýÇÑ Ç÷¾×³» »ê¼Ò³óµµ À¯ÁöÀÌ´Ù.
¿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: 5
  • ¿µ¹®
    ÇѱÛ
  • 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 radiation syndrome
    ±Þ¼º¹æ»ç¼±ÁõÈıº
  • 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
  • Albright¡¯s syndrome
    ¿Ãºê¶óÀÌÆ®ÁõÈıº
  • Alport syndrome
    ¾ËÆ÷Æ®ÁõÈıº
  • alveolar hypoventilation syndrome
    ÆóÆ÷Àúȯ±âÁõÈıº
  • abstinence syndrome
    ±Ý´ÜÁõÈıº
  • amnestic syndrome
    ±â¾ï»ó½ÇÁõÈıº
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • retraction syndrome
    ¾È±¸ÈÄÅðÁõÈıº
  • severe acute respiratory syndrome
    ÁßÁõ±Þ¼ºÈ£ÈíÁõÈıº
  • Sheehan's syndrome
    ½¬ÇÑÁõÈıº
  • short bowel syndrome
    ªÀºÃ¢ÀÚÁõÈıº
  • sick building syndrome
    ºôµùÁõÈıº
  • Sjogren syndrome
    ¼î±×·»ÁõÈıº
  • Stevens-Johnson syndrome
    ½ºÆ¼ºì½ºÁ¸½¼ÁõÈıº
  • subacromial syndrome
    ºÀ¿ì¸®¹ØÁõÈıº, °ßºÀÇÏÁõÈıº
  • sudden infant death syndrome
    ¿µ¾Æ±Þ»çÁõÈıº
  • superior vena caval syndrome
    À§´ëÁ¤¸ÆÁõÈıº, »ó´ëÁ¤¸ÆÁõÈıº
  • systemic inflammatory response syndrome
    Àü½Å¿°Áõ¹ÝÀÀÁõÈıº
  • tarsal tunnel syndrome
    ¹ß¸ñ±¼ÁõÈıº, Á·±Ù°üÁõÈıº
  • testicular feminization syndrome
    °íȯ¿©¼ºÈ­ÁõÈıº
  • thoracic outlet syndrome
    °¡½¿¹®ÁõÈıº, Èä°ûÃⱸÁõÈıº
  • Turner's syndrome
    ÅͳÊÁõÈıº
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • anginal syndrome
    Çù½ÉÁõÁõÈıº
  • angioosteohypertrophy syndrome
    Ç÷°ü»ÀºñÈÄÁõÈıº
  • anterior interosseous nerve syndrome
    ¾Õ»À»çÀ̽ŰæÁõÈıº
  • anterior spinal artery occlusion syndrome
    ¾Õô¼öµ¿¸ÆÆó»öÁõÈıº
  • antibody deficiency syndrome
    Ç×ü°áÇÌÁõÈıº
  • anxiety syndrome
    ºÒ¾ÈÁõÈıº
  • aortic arch syndrome
    ´ëµ¿¸ÆÈ°ÁõÈıº
  • apallic syndrome
    ´ë³ú°ÑÁú»ó½ÇÁõÈıº
  • aqueous mis-direction syndrome
    ¹æ¼öÈ帧ÀÌ»óÁõÈıº
  • asphyctic syndrome
    Áú½ÄÁõÈıº
  • atomic bomb syndrome
    ¿øÀÚÆøÅºÁõÈıº
  • auriculotemporal syndrome
    ±Ó¹ÙÄû°üÀÚÁõÈıº
  • basal cell nevus syndrome
    ¹Ù´Ú¼¼Æ÷¸ð¹ÝÁõÈıº, ±âÀú¼¼Æ÷¸ð¹ÝÁõÈıº
  • battered child syndrome
    ¸Å¸Â´Â¾ÆÀÌÁõÈıº
  • biochemical defect syndrome
    »ýÈ­ÇÐÀû°áÇÔÁõÈıº
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • Conradi syndrome => chondrodysplasia calcificans congenita
    ¼±Ãµ¼º Ä®½·È­ ¿¬°ñ ÀÌÇü¼º
  • Conradi-Hunermann syndrome => chondrodysplasia punctata, autosomal dom
    »ó¿°»öü ¿ì¼ºÇü Á¡»ó¿¬°ñ ÀÌÇü¼º
  • Costens syndrome
    ÄÚ½ºÅÙ ÁõÈıº
  • Cotards syndrome
    ÄÚŸ¸£ÁõÈıº.
  • Cri du chat syndrome ºÒ
    ¹¦¼ºÁõÈıº.
  • Cronkhite Canada syndrome
    Å©·ÐÄ«ÀÌÆ® Ä«³ª´Ù ÁõÈıº
  • Crouzon syndrome
    Å©·ÎÁ¸ ÁõÈıº
  • Crouzons syndrome = craniofacial dysostosis
    µÎ°³¾ó±¼ À̰ñÁõ
  • Crouzons syndrome=>craniofacial dysostosis
    Å©·çÁ¸ÁõÈıº
  • Cushing syndrome
    Äí½ÌÁõÈıº
  • Cushing syndrome
    Äí½Ì ÁõÈıº
  • Cushingoid syndrome
    Äí½Ì¾çÁõÈıº.
  • Cushings syndrome
    Äí½ÌÁõÈıº.
  • Cushings syndrome
    Äí½ÌÁõÈıº
  • DaCostas syndrome
    ´ÙÄÚ½ºÅ¸ ÁõÈıº(~ñøý¦ÏØ)
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • fistula,urinary bladder
    ¹æ±¤(Û¹ÎÍ)
  • flaccid neuropathic bladder
    À̿ϼº ½Å°æÀμº¹æ±¤
  • full bladder technique
    ¹æ±¤ Ãæ¸¸¹ý
  • fundus of bladder
    ¹æ±¤¹Ù´Ú
  • gall bladder
    ¾µ°³(ÁÖ¸Ó´Ï) ´ã³¶
  • gall bladder bed
    ´ã³¶ ÀÚ¸®
  • hydrops of gall bladder
  • hypertonic bladder
    °í±äÀ强 ¹æ±¤.
  • ileal bladder
    ȸÀ广±¤
  • ileocecal bladder
    ȸ¸ÍÀå ¹æ±¤
  • invasive bladder tumor
    ħÀ±¼º¹æ±¤¾Ï
  • irritable bladder
    °ú¹Î(¼º) ¹æ±¤(ΦÚÂàõ Û¹ÎÍ).
  • kidney ureter and bladder =KUB
    ½Å-´¢°ü-¹æ±¤ ´Ü¼øÃÔ¿µ
  • lymphatic nodules of urinary bladder
    ¹æ»ç ¹æ±¤¸²ÇÁ¼ÒÀý.
  • motor paralytic neurogenic bladder
    ¿îµ¿¸¶ºñ¼º ½Å°æÀμº ¹æ±¤.
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 5
BNO bladder neck obstruction; bowels not opened
BRD bladder retraining drill; bovine respiratory disease
BT base of tongue; bedtime; bitemporal; bitrochanteric; bladder tumor; Blalock-Taussig [shunt]; bleedin...
BW bacteriological warfare; bed wetting; below waist; biological warfare; biological weapon; birth weig...
CBD carotid body denervation; closed bladder drainage; common bile duct
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 5
ARDS Acute respiratory distress syndrome
ACS Acute Chest Syndrome
ARN Acute retinal necrosis syndrome
ATLS Acute tumor lysis syndrome
AGS Adrenogenital Syndrome
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • androgen resistance syndrome
    ³²¼º È£¸£¸ó ³»¼º ÁõÈıº, ³²¼º È£¸£¸ó ÀúÇ× ÁõÈıº
  • Angelmans syndrome
    ¾Þ°Ö¸¸ ÁõÈıº
  • anginal syndrome
    Çù½ÉÁõ ÁõÈıº
  • anorexia-cachexia syndrome
    ½Ä¿å ºÎÁø-¾Ç¾×Áú ÁõÈıº
    ½Ä¿å ºÎÁø°ú ¾Ç¾×Áú°£¿¡ ¾ÆÁ÷ ¹àÇôÁöÁö ¾ÊÀº ¾î¶² °ü°è¿¡¼­ ÀϾ´Â ¾ÏÀÇ Àü½Å Áõ»óÀ¸·Î¼­ ¿µ¾ç½ÇÁ¶, üÁß °¨¼Ò, ±ÙÀ° Çã¾à, »ê¼ºÁõ ¹× Áßµ¶ÁõÀÌ Æ¯Â¡ÀÌ´Ù. ½Ä¿å ºÎÁøÀ» ÀÏÀ¸Å°´Â ±Ù°Å·Î´Â ½ÉÇÑ ´ÙÀμº ½ÅÁø´ë»çÀÇ Àå¾Ö°¡ ¾Ç¾×Áú¼º ¼Ò¸ð¸¦ ÀÏÀ¸Å°´Â µ¥ °ü¿©ÇÑ´Ù°í »ý°¢µÈ´Ù. µû¶ó¼­ ½Ã»ó ÇϺο¡ ÀÖ´Â Æ÷¸¸ ÁßÃ߸¦ Á¾¾ç¿¡¼­ ºÐºñµÇ´Â ½Ä¿åºÎÁø È£¸£¸óÀÌ ÀÚ±ØÇÏ¿© ½Ä¿åÀ» ¾ø¾Ö ½Ä¿åºÎÁøÀ» ÀÏÀ¸Å²´Ù´Â °ÍÀÌ´Ù.
  • anterior choroidal artery occlusion syndrome
    Àü¸Æ¶ô Ãѵ¿¸Æ Æó¼â ÁõÈıº
  • anterior cornual syndrome
    Àü°¢ ÁõÈıº
    ô¼ö Àü°¢ÀÇ »óÇØ¸¦ ³ªÅ¸³»°í, ¿îµ¿ ¸¶ºñ¿Í ±Ù À§ÃàÀÌ Æ¯Â¡ÀÌ´Ù.
  • anterior spinal artery syndrome
    Àüô¼ö µ¿¸Æ ÁõÈıº
  • anterior spinal syndrome
    Àü»è ÁõÈıº
  • anticholinergic syndrome
    Ç×Äݸ°¼º ÁõÈıº
    °æÁõ °íÇ÷¾Ð°ú ºó¸ÆÀÌ ÀϹÝÀûÀ̸ç, ü¿ÂÀº ÈçÈ÷ »ó½ÂµÈ´Ù. µ¿°øÀº ±¤¹üÀ§ÇÏ°Ô È®ÀåµÇ¾î ÀÖ´Ù. ÇǺδ ¹ßÀûµÇ¾î ÀÖ°í ¶ß°Ì°í °ÇÁ¶ÇÏ´Ù. Àå ¿îµ¿Àº °¨¼ÒÇÏ°í ¿ä Á¤Ã¼
  • anxiety syndrome
    °í¹Î ÁõÈıº, ºÒ¾È ÁõÈıº
    Á¤½ÅÀû °í¹Î¿¡ ¼ö¹ÝÇÏ´Â ÁõÈıºÀ¸·Î, ½É°èÇ×Áø, È£Èí°ï¶õ, ¹ßÇÑ, ¾È»ö â¹é, °øÆ÷ µîÀ» ³ªÅ¸³½´Ù.
  • aortitis syndrome
    ´ëµ¿¸Æ¿° ÁõÈıº
  • apallic syndrome
    ¹«½É ÁõÈıº
  • apathetic-akinetic syndrome
    ¹«°¨µ¿-¹«µ¿ÀÛ ÁõÈıº
  • Apert syndrome
    ¿¡ÆÛÆ® ÁõÈıº, ¾ÆÆä¸£Æ® ÁõÈıº
    ÀÓ»óÀûÀ¸·Î µÎ°³°ñ ºÀÇÕÀÇ Á¶±â Æó¼â·Î ÀÎÇÑ µÎ°³ ±âÇü, ¾È¸é Á߾ӺΠÇü¼º ºÎÀü, ¾çÃø¼º ÇÕÁöÁõÀ¸·Î Á¤ÀǵȴÙ. µå¹® Àå¾Ö·Î¼­ ¶§·Î »ó¿°»öü ¿ì¼º À¯ÀüÀÌ °üÂûµÇ±âµµ Çϳª º¸ÅëÀº »ê¹ßÀûÀÎ µ¹¿¬º¯ÀÌ¿¡ ÀÇÇØ ¹ß»ýµÈ´Ù.
  • arthritis-dermatitis syndrome
    °üÀý¿°-ÇǺο° ÁõÈıº
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
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)
achoo syndrome <syndrome> A disorder characterised by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually sunlight.
Inheritance: autosomal dominant.
(05 Aug 1998)
Acquired Immunodeficiency Syndrome <immunology, syndrome> An epidemic disease caused by an infection by human immunodeficiency virus (HIV-1, HIV-2), a retrovirus that causes immune system failure and debilitation and is often accompanied by infections such as tuberculosis. AIDS is spread through direct contact with bodily fluids.
Acronym: AIDS
(10 May 1997)
acrofacial syndrome Mandibulofacial dysostosis associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis.
See: Treacher Collins' syndrome
Synonym: acrofacial syndrome.
Origin: dys-+ G. Osteon, bone, + -osis, condition
(05 Mar 2000)
acroparesthesia syndrome <syndrome> Abnormal sensation such as numbness and tingling in the hands, usually in middle-aged women; classic symptom of carpal tunnel syndrome.
(05 Mar 2000)
acth syndrome, ectopic Symptom complex due to acth production by non-pituitary neoplasms.
(12 Dec 1998)
acute brain syndrome <syndrome> A condition of severe confusion or rapid change in brain function. This often occurs as the result of a mental illness or physical illness.
Symptoms include lethargy, agitation, confusion, disorientation and delirium.
(27 Sep 1997)
acute nephritic syndrome <nephrology, syndrome> A disease of the kidneys that results in inflammation of the glomerulus (the portion of the kidney that filters the blood).
Conditions which may cause glomerulonephritis include post-streptococcal disease (strep throat), lupus, syphilis, bacterial endocarditis, membranoproliferative glomerulonephritis, sepsis, vasculitis, Goodpasture's syndrome, typhoid fever, Henoch-Schonlein purpura, hepatitis or a viral infection (for example mumps, measles, mononucleosis).
(15 Jan 1998)
acute organic brain syndrome <syndrome> A constellation of behavioural or psychological signs and symptoms including problems with attention, concentration, memory, confusion, anxiety, and depression caused by transient or permanent dysfunction of the brain.
Synonym: acute organic brain syndrome, OBS, organic mental syndrome.
(05 Mar 2000)
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