title: A case of severe dysmelia of all extremities.
abstract: A group of limb reduction defects is defined by congenital absence of either part of limbs. We report an extremely rare case of symmetrical upper limb peromelia (absence of distal bones) and asymmetrical lower limb phocomelia (absence of long bones and a flipper-like appearance of feet) in a female fetus at the 20th week of pregnancy. No other malformations were identified. The prevalence of peromelia and phocomelia is extremely rare, and these malformations can be associated with some candidate genes (e.g. de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1)).
authors.affiliation: Department of Obstetrics and Gynecology, Comenius University, Jessenius Medical Faculty, Martin, Slovakia.
authors.forename: Jozef
authors.initials: J
authors.lastname: Visnovsky
authors.forename: Kamil
authors.initials: K
authors.lastname: Biringer
authors.forename: Karol
authors.initials: K
authors.lastname: Dokus
mesh_terms: D004480:Ectromelia / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D038061:Lower Extremity Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D038062:Upper Extremity Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology; D055815:Young Adult