The syndrome of proximal femur, fibula, and midline metatarsal long bone deficiencies

Birth Defects Research
D R Hootnick, Neil Vargesson

Abstract

Human lower limb congenital long bone deficiencies cluster primarily at three distinct skeletal locations. Proximal femoral and fibular reductions are known phenomena. In contrast, midline metatarsal deficiencies have been misrepresented as lateral. The popular term, "fibular hemimelia," is inaccurate and its use is discouraged. All three locations correspond to discrete sites of evolving angiogenesis during transition from a single embryonic axial limb artery to the familiar and complex adult arterial pattern. Initiation of bone formation of cartilaginous primordia of the long bones at all three sites occurs in proximity to, and depends upon, successful invasion by mature nutrient vessels, formed during the 6th and 7th weeks of embryonic development. The adult arterial pattern is fully established by 8th embryonic week. Arterial transitions occur later in development, around the time of cessation of the molecular processes of patterning/specification of the embryonic limb. Evidence of flawed embryonic arterial transitions, involving missing, reduced and/or retained primitive vessels in association with congenital skeletal reductions have been demonstrated at all three sites. Current molecular models of limb development do not ...Continue Reading

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Citations

Jul 31, 2020·Journal of the American Podiatric Medical Association·David R Hootnick
Dec 25, 2019·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·David R Hootnick
Dec 15, 2020·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Jason A Horton, David R Hootnick
Mar 28, 2021·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·David R Hootnick, E Mark Levinsohn
Jan 7, 2021·Pediatrics·David HootnickAmy Caruso Brown

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