Aqueiropodia: primer reporte de caso en Argentina

doi:10.5546/aap.2015.e299

Cited by 1 publication

(1 citation statement)

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“…It was first described in 1929 in Brazil, with half of a family of 12 children affected [ 8 , 9 ]. Studies estimate that the prevalence of this condition in Brazil is approximately 1 in 250,000 births [ 10 , 11 ]. Genetic analysis of five families with archeiropodia revealed a common mutation in C7orf2 , the human ortholog of the mouse Lmbr1 gene [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Novel bilateral symmetrical congenital transverse upper and lower limb deficiencies in siblings in Ethiopia: two case reports

Melaku

Bekele²,

Dires

et al. 2022

J Med Case Reports

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Background Transverse congenital limb deficiency is a common limb deficiency where there is normal limb development until a certain point, beyond which no anatomical structure exists. Typically, this presents as an isolated and spontaneous abnormality as a result of arrest during limb bud development. Transverse bilateral deficiency in both upper and lower limbs is not well described. Case presentation We report the cases of two female Ethiopian amhara siblings, aged 6 years and 5 months, respectively, from Ethiopia with similar transverse bilateral upper and lower limb deficiencies. The sisters were born from the same parents and have similar phenotypic presentations. Neither of them have other syndromic features or systemic manifestations. The siblings are currently on follow-up and are receiving assistance by specialist orthotists, who are working to improve walking and also providing adaptive equipment to facilitate self-care and feeding. Conclusion The relationship of the patients and the similarity of phenotypical presentations suggests a strong genetic link.

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