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睇掌揭罕見遺傳病:骨病變綜合症_唐氏綜合症_龍蝦手綜合症

Posted on: August 22, 2011


睇掌揭罕見遺傳病 兩指奇短臂生硬粒 證⻣病變
明報 – 2011年8月22日星期一上午6:40

【明報專訊】掌紋、手形、五指長短不僅「睇相佬」批命必看,原來西醫診斷部分遺傳基因或染色體綜合症,也會看手掌找端倪。中大最近接獲一宗10歲女童手臂內側皮膚離奇長出由鈣組成的硬粒,兒科醫生憑女童無名指和尾指異常短小起懷疑,化驗後證實她患上極罕見的「骨病變綜合症」,除了手臂硬粒,她腦部亦已鈣化。

為該女童找出病因的中大兒科學系教授韓錦倫說,她所患的「骨病變綜合症」(Albright Osteodystrophy Syndrome)在本港極為罕見,據他所知,本港個案可能少過3個。患者是遺傳因子出問題,導致身體組織鈣化,但與此同時骨的鈣質卻不足,由於病例太少,一般產前檢驗是驗不出此類遺傳問題。

無名指尾指短小 智力變遲緩

肇事女童其實在3個月大時,手臂內側和雙腳關節位的皮膚已長出不少硬粒,但父母一直未有留意,直至女童10歲,智力發育呈現遲緩,手臂內側硬粒愈來愈多,才轉介韓錦倫跟進。韓為她診斷時,注意到她的手指和腳趾長度也有異常,其中無名指和尾指顯得特別短,推測她可能患有某些綜合症。

鈣質新陳代謝出錯 腦部鈣化

經驗血、腦部掃描和皮膚組織化驗,證實女童不但皮膚鈣化形成粒粒,腦部亦鈣化,這是因為她體內的鈣質新陳代謝出了亂子,更影響智力發展。韓說,女童目前須服用維他命D和鈣控制身體鈣化,並由內分泌專科定期跟進,他不諱言,若女童早獲確診並針對治療,或可減輕疾病對其腦部發育的損害。

由於不少因遺傳基因出問題引起的綜合症,也會在患者手指和掌紋呈現特殊徵狀,韓錦倫說,「其實醫生診斷也要看掌」。如唐氏綜合症兒童,其實多數會有「斷掌」掌紋(見圖),兼且尾指第二節特別短小,並會微微向內彎。

唐氏童多「斷掌」 尾指二節短

因此,若初生嬰未呈現唐氏綜合症典型的鼻扁、兩眼距離特別闊等相貌徵狀,看掌也可作初步懷疑診斷,但他補充﹕「這不代表斷掌一定患唐氏綜合症!」

另外,因女性少了一條X染色體,令XX變成X0的「Turner」綜合症,除有頸粗、個子矮小等特徵,其無名指和尾指也特別短小。另有一種名為「龍蝦手」的染色體問題綜合症,更會令患兒手如蟹鉗,但智力並無問題,有患者甚至精於彈鋼琴。

明報記者 陳佩儀

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