Home > F. Pathology by regions > Limbs > limb malformations

limb malformations

Thursday 2 December 2004

Types

- amelia
- micromelia (short limbs)
- ^peromelia
- sirenomelia
- brachydactyly
- rhizomelic limbs
- acrocapitofemoral dysplasia
- limb hypoplasia
- hand malformations

  • fingers malformations

- foot malformations

Localization

- upper limbs malformations
- lower limbs malformations

Associations (#10869112#) (Non-syndromal limb defect plus at least one other major malformation in 12.9/100,000 population)

- preaxial limb defects

  • microtia
  • esophageal atresia
  • anorectal atresia (anorectal agenesis)
  • cardiac malformations (heart defects)
  • unilateral kidney dysgenesis
  • axial skeletal malformations (axial skeleton defects)

- postaxial limb defects

  • hypospadias
  • transverse defects with craniofacial defects
  • micrognathia
  • ring constrictions
  • muscular defects
  • intercalary defects with omphalocele
  • split hand/foot with encephalocele
  • amelia with anorectal atresia
  • omphalocele
  • severe genitalia defects
  • unilateral kidney dysgenesis
  • gastroschisis
  • ring constriction

References

- Gurrieri F, Kjaer KW, Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002 Dec 30;115(4):231-44. PMID: #12503118#

- Manouvrier-Hanu S, Holder-Espinasse M, Lyonnet S. Genetics of limb anomalies in humans. Trends Genet. 1999 Oct;15(10):409-17. PMID: #10498937#

Portfolio

  • Humeral meromelia (fetus, 21 weeks)
  • Humeral meromelia (fetus, 21 weeks)
  • Humeral meromelia (fetus, 21 weeks)
  • Humeral meromelia (fetus, 21 weeks)