title: Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects.
abstract: Terminal transverse deficiency of forearm is a very rare limb malformation. Most of the cases have traumatic etiology and congenital presentation is less common. A series of six individuals with transverse deficiency through the hands is presented in this communication. The cases were congenital, morphologically similar and showed loss of four fingers, most often postaxial. The affected arm was reduced in size compared to the contralateral limb and there was distortion of palmer creases. All cases were sporadic and non-syndromic in nature. The characteristics of these cases were concordant with the symbrachydactyly type III or monodactylous type, when classified according to the scheme proposed by Blauth and Gekeler (1973). The malformation resulted in permanent quality-of-life impairment in these subjects and warrant prosthetic management. Detailed physical and phenotypic features of the patients have been presented.
authors.affiliation: Hafiza Fizzah Riaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors.forename: Hafiza Fizzah
authors.initials: HF
authors.lastname: Riaz
authors.affiliation: Karmoon Lal, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors.forename: Karmoon
authors.initials: K
authors.lastname: Lal
authors.affiliation: Saif Ullah, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors.forename: Saif
authors.initials: S
authors.lastname: Ullah
authors.affiliation: Nadeem Ahmad Bhatti, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors.forename: Nadeem Ahmad
authors.initials: NA
authors.lastname: Bhatti
authors.affiliation: Waheed Ullah, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors.forename: Waheed
authors.initials: W
authors.lastname: Ullah
authors.affiliation: Sajid Malik, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors.forename: Sajid
authors.initials: S
authors.lastname: Malik
keywords: Limb amputations; Pakistani subject; monodactyly; symbrachydactyly; terminal deficiency; transverse defects