title: Zygodactyly with thumb aplasia: an unusual variant in a male subject.
abstract: This is a presentation of a male subject with unusual combination of limb malformations. The subject had unilateral zygodactyly of the left foot with thumb aplasia in the right hand. Further, the webbing between second and third toes was complete culminating in osseous fusion of the terminal phalanges and valgus deviation of the affected digits of the foot. The nails were also involved but had separate origins. In the right hand, first digital ray was observed to be completely omitted. There was aplasia of certain carpals while the radius showed minimal clinical symptoms. The subject was the product of first cousins union. To the best of our knowledge, this combination of limb phenotype has not been described before.
authors.affiliation: Human Genetics Program, Department of Animal Sciences, Quaid-i-Azam University, Islamabad. malik@qau.edu.pk
authors.forename: Sajid
authors.initials: S
authors.lastname: Malik
authors.forename: Nazish
authors.initials: N
authors.lastname: Jabeen
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D003937:Diagnosis, Differential; D005532:Foot Deformities, Congenital / Q000175:diagnosis*; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D008297:Male; D011859:Radiography; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging