title: Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.
abstract: Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has been reported by several authors. The majority of cases are unilateral. When both upper limbs arms are involved, cases with oligodactyly often have asymmetrical limb deficiencies and have all been sporadic to date. Some appear to represent cases of the femur-fibula-ulna or FFU complex. Affected individuals with normal hands usually have symmetrical defects and show an autosomal recessive pattern of inheritance. Limb deficiencies have been reported in several infants exposed prenatally to cocaine and have been inducible in animal models. Most are terminal transverse defects or deficiencies of middle digits. When more than one limb is involved, the defects are usually asymmetric. Our case appears to be one of the most severely affected children reported to date.
authors.affiliation: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada. smarles@hsc.mb.ca
authors.forename: Sandra L
authors.initials: SL
authors.lastname: Marles
authors.forename: Martin
authors.initials: M
authors.lastname: Reed
authors.forename: Jane A
authors.initials: JA
authors.lastname: Evans
mesh_terms: D000014:Abnormalities, Drug-Induced; D000015:Abnormalities, Multiple / Q000139:chemically induced / Q000473:pathology*; D000328:Adult; D002675:Child, Preschool; D003042:Cocaine / Q000009:adverse effects*; D004480:Ectromelia / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D008297:Male; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D011884:Radius / Q000002:abnormalities; D013576:Syndactyly / Q000473:pathology; D013580:Synostosis / Q000473:pathology*; D014457:Ulna / Q000002:abnormalities*
chemical_list: D003042:Cocaine