title: Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects.
abstract: Congenital hypoplasia of thumb is rare malformation which is less likely to appear as an isolated entity. Four independent subjects exhibiting various grades of underdeveloped first digital ray were recruited. The affected autopods had narrow palms, medial or valgus inclinations of index fingers and thenar weakness, while the postaxial digits were least affected. According to the classification of hypoplastic thumb by Blauth and Schneider-Sickert (1981), the phenotypes were concordant with types 3 and 4. In one of the subjects there was contralateral preaxial polydactyly. All cases were sporadic and nonsyndromic and parental consanguinity was witnessed in two individuals. Recurrent appearance of similar phenotypes may suggest genetic etiologies which should be elucidated with the help of high-throughput genetic methods.
authors: Karmoon Lal, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Karmoon
authors: K
authors: Lal
authors: Sara Mumtaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Sara
authors: S
authors: Mumtaz
authors: Attiq-ur-Rehman, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Attiq-Ur-
authors: AU
authors: Rehman
authors: Maryam Bibi, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Maryam
authors: M
authors: Bibi
authors: Zahida Pervin, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Zahida
authors: Z
authors: Pervin
authors: Sajid Malik, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Sajid
authors: S
authors: Malik
keywords: First digit ray; Limb anomaly; Oligodactyly; Pakistani subjects; Thumb hypoplasia