PMID: 9546828Apr 18, 1998Paper

Four cases of amelia of the upper limb associated with anal atresia--is this VACTERL with extreme limb involvement?

Clinical Dysmorphology
S M PriceI D Young

Abstract

Amelia is an extremely rare abnormality with a highest reported incidence of 1 in 67,500 liveborn infants. We now report four cases in each of which amelia involving one upper limb occurred in association with anal atresia. The pattern of other abnormalities present in these cases suggests that this combination of amelia and anal atresia falls within the spectrum of the VACTERL association.

Citations

Jun 20, 2002·Clinical Dysmorphology·Caroline StewartFiona Stewart
Jun 7, 2007·Clinical Dysmorphology·Fanny Pelluard-NehméDidier Lacombe
Apr 5, 2008·American Journal of Medical Genetics. Part a·Marco CastoriPaola Grammatico

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