多指症是一目了然的。对于并指多指症的病人,有时表现为手指扁阔仅有指骨或掌骨赘生,需借助X线摄片诊断。
多指分为桡侧多指(轴前多指)、中央多指及尺侧多指(轴后多指)三类,以尺侧多指最为多见。桡侧多指属于拇指畸形一类。
尺侧多指症由于赘生指所包含的组织成分不同,又可分为三类:(1)软组织多指,多指中没有骨、肌腱等组织;(2)单纯多指,多指中含有指骨、肌腱等;(3)复合性多指,不仅含有指骨、肌腱等,而且包括掌骨孪生。
尺侧多指可伴有多种其他畸形,如并指、三节指骨拇指、唇裂、多囊肾、肛门闭锁、胫骨缺失、侏儒、膀胱外翻、脊柱畸形、心脏病、眼缺失、耳聋、脑积水、慢性肾炎、性功能减退、指甲发育不良等。中央多指多伴有并指畸形,常为双侧性,命名为多指并指。中央多指并指常属于分裂手畸形的一种。
97 genetic syndromes have been associated with different kinds of polydactyly.(译:已经有97种遗传综合征被证明和不同种多指征有一定关系。)[截至2009年]
(1)治疗时机单纯性多指症,特别是尺侧单纯性多指症,没有掌骨及掌指关节赘生,宜在婴儿3—6月内完成多指症矫正手术治疗。复合性多指症,如桡侧复合性多指以及中央多指并指等,多指症矫正手术时间可推迟,但仍应争取在2岁前完成,以利家长在心理上早日得到安慰,患儿亦不致有心理障碍。
(2)多指症矫正手术方法单纯性多指作多指切除及局部皮肤整形。复合性多指症除了多指切除以外,还需进行多余的掌骨全切除或部分切除。掌骨切除的多少根据患手的形态、功能重建的要求而定。在切除多指的同时,有时需进行关节、骨畸形矫正,关节韧带修复及皮肤整形等。
OMIM | Type | Locus | Inheritance |
---|---|---|---|
174200 | Postaxial, Type A1 or B | GLI3 at 7p14.1 | AD |
602085 | Postaxial, Type A2 | PAPA2 at 13q21-32 | AD |
607324 | Postaxial, Type A3 | PAPA3 at 19p13.2-13.1 | (In Progress) |
608562 | Postaxial, Type A4 | PAPA4 at 7q22 | (In Progress) |
263450 | Poataxial, Type A5 | PAPA5 at 13q13.3-21 | AR |
615226 | Postaxial, Type A6 | 4p16.3 | AR |
174400 | Preaxial, Type I | (Unmapped) | (In Progress) |
174500 | Preaxial, Type II | LMBR1 at 7q36.3 | AD |
174600 | Preaxial, Type III | (Unmapped) | (In Progress) |
174700 | Preaxial, Type IV | GLI3 at 7p14.1 | AD |
(Updated at 1:53 A.M, on March 13th, 2016)
编者注:Postaxial can be defined as Ulnar, whilePreaxial as Radial.
OMIM | Type | Locus | Inheritance |
---|---|---|---|
174200 | Postaxial, Type A1 or B | GLI3 at 7p14.1 | AD |
602085 | Postaxial, Type A2 | PAPA2 at 13q21-32 | AD |
607324 | Postaxial, Type A3 | PAPA3 at 19p13.2-13.1 | (In Progress) |
608562 | Postaxial, Type A4 | PAPA4 at 7q22 | (In Progress) |
263450 | Poataxial, Type A5 | PAPA5 at 13q13.3-21 | AR |
615226 | Postaxial, Type A6 | 4p16.3 | AR |
174400 | Preaxial, Type I | (Unmapped) | (In Progress) |
174500 | Preaxial, Type II | LMBR1 at 7q36.3 | AD |
174600 | Preaxial, Type III | (Unmapped) | (In Progress) |
174700 | Preaxial, Type IV | GLI3 at 7p14.1 | AD |