Study of non-syndromic thumb aplasia in six independent cases.

Autor: Riaz HF; Hafiza Fizzah Riaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan., Lal K; Karmoon Lal, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan., Ahmad B; Bashir Ahmad, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan., Shuaib M; Muhammad Shuaib, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan., Naqvi SF; Syeda Farwa Naqvi, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan., Malik S; Sajid Malik, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Jazyk: angličtina
Zdroj: Pakistan journal of medical sciences [Pak J Med Sci] 2014 May; Vol. 30 (3), pp. 677-81.
DOI: 10.12669/pjms.303.4626
Abstrakt: Objectives: To report on six independent and isolated cases demonstrating thumb aplasia as an essentially limb-specific phenotype.
Methods: The subjects were ascertained during 2011-2013 from six different geographic regions of Pakistan, and underwent detailed clinical and phenotypic examination.
Results: 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.
Conclusion: 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.
Databáze: MEDLINE
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