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

ABSTRACT:

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.

SUBMITTER: Riaz HF 

PROVIDER: S-EPMC4048531 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature