limb malformations
Image Gallery
[ (||image_reduire{0,60}|inserer_attribut{alt,Humeral meromelia (fetus, 21 weeks)}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Humeral meromelia (fetus, 21 weeks)}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Humeral meromelia (fetus, 21 weeks)}) ] [ (||image_reduire{0,60}|inserer_attribut{alt,Humeral meromelia (fetus, 21 weeks)}) ]
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#