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.

Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy

“…There is evidence in humans and rats of an increased risk of vascular disruption defects after in utero cocaine exposure (Hoyme et al, 1990;Church et al, 1998;Marles et al, 2003). Our case of a single umbilical artery combined with a limb reduction defect supports this hypothesis.…”

Non‐syndromic bilateral ulnar aplasia with humero‐radial synostosis and oligo‐ectro‐dactyly

“…Humero-radial synostosis "in series" can cause the appearance of humeral "bifurcation" (Leroy & Speeckaert, 1984;Marles, Reed, & Evans, 2003). This clinical entity has been described by numerous authors, as far back as the 1880s (Förster & Francis, 1865), both as part of a broader syndrome (Ramer & Ladda, 1989), or as an isolated occurrence (Nema, Vyas, Sirsikar, & Bhoj, 2012).…”

Craniofacial anomalies, humero‐radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome

“…The vast majority of these cases have, in addition to HRS, MCA including skeletal anomalies. The described skeletal anomalies can be grouped into four main categories of: (i) craniosynostosis [Allain et al, 1976;Ives and Houston, 1980;Barone et al, 1993;Samson and Gardner, 1996;Shotelersuk et al, 2002], (ii) symphalangism [Park et al, 1972;Schinzel, 1980;Richieri-Costa and Pagnan, 1986;Schumacher et al, 1988;Sahoo et al, 1996], (iii) limb reduction, [Glass et al, 1994;Marles et al, 2003], and (iv) other skeletal defects [Keutel et al, 1970;Hughes et al, 1982;Van Gelderen, 1982;Alsing and Christensen, 1988;Chrzanowska et al, 1989;Faivre et al, 2001]. None of these cases would fit the findings in our patients.…”