Hafiza Fizzah Riaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Karmoon Lal, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Pak J Med Sci. 2014 May;30(3):677-81. doi: 10.12669/pjms.303.4626.
To report on six independent and isolated cases demonstrating thumb aplasia as an essentially limb-specific phenotype.
The subjects were ascertained during 2011-2013 from six different geographic regions of Pakistan, and underwent detailed clinical and phenotypic examination.
The affected arms of patients had complete absence of first digital rays, medial inclinations of second and fifth fingers, narrowing of palms, missing carpals, and shortening of zeugopod. All the subjects were presented with isolated and sporadic limb deficiencies, and five had no family history of limb or any other malformation. Parental consanguinity was denied in majority of the cases. We present detailed phenotypic manifestation of thumb apalsia in these subjects.
Thumb aplasia markedly impairs the normal function of affected hand. Surgical procedures like pollicisation of the index finger should be employed to improve the quality of life of these subjects. There is so far no specific genetic factor known for isolated thumb aplasia, compromising an accurate genetic counseling. Collection of patients with similar phenotypic presentations could be useful in further molecular genetic investigations.
报告 6 例独立且孤立的拇指发育不全病例，其表现为基本的肢体特异性表型。
2011 年至 2013 年期间，我们在巴基斯坦的六个不同地区确定了这些受试者，并对他们进行了详细的临床和表型检查。
患者受影响的手臂完全缺失第一指骨，第二和第五手指内侧倾斜，手掌变窄，腕骨缺失，桡尺骨缩短。所有受试者均表现为孤立性和散发性肢体缺陷，5 例无肢体或任何其他畸形的家族史。大多数情况下，否认有父母近亲结婚。我们在此介绍这些受试者拇指发育不全的详细表型表现。
拇指发育不全严重影响受影响手的正常功能。应采用拇指化手术等外科手术来提高这些受试者的生活质量。目前，孤立性拇指发育不全还没有明确的特定遗传因素，这使得遗传咨询无法做到准确。收集具有类似表型表现的患者可能有助于进一步的分子遗传学研究。
