Hemimelia and absence of the peroneal artery

Huda, Shehzad; Sangster, Guillermo; Pramanik, Arun K.; Sankararaman, Senthilkumar; Tice, Hilary; Ibrahim, Hassan

doi:10.1038/jp.2013.137

Cited by 11 publications

(7 citation statements)

References 12 publications

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“…Other associations that are seen include a hypoplastic, subluxed, or dislocated patella; agenesis of cruciate ligaments; hypoplastic femoral condyles; and major vascular anomalies (11,39,40). The principal vascular abnormalities of patients with FH are the absence of the anterior tibialis and dorsalis pedis arteries (39).…”

Section: Associations Of Fhmentioning

confidence: 95%

Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up

Bedoya¹,

Chauvin²,

Jaramillo

et al. 2015

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Congenital lower limb shortening is a group of relatively rare, heterogeneous disorders. Proximal focal femoral deficiency (PFFD) and fibular hemimelia (FH) are the most common pathologic entities in this disease spectrum. PFFD is characterized by variable degrees of shortening or absence of the femoral head, with associated dysplasia of the acetabulum and femoral shaft. FH ranges from mild hypoplasia to complete absence of the fibula with variable shortening of the tibia. The development of the lower limb requires complex and precise gene interactions. Although the etiologies of PFFD and FH remain unknown, there is a strong association between the two disorders. Associated congenital defects in the lower extremity are found in more than 50% of patients with PFFD, ipsilateral FH being the most common. FH also has a strong association with shortening and bowing of the tibia and with foot deformities such as absence of the lateral rays of the foot. Early diagnosis and radiologic classification of these abnormalities are imperative for appropriate management and surgical planning. Plain radiography remains the main diagnostic imaging modality for both PFFD and FH, and appropriate description of the osseous abnormalities seen on radiographs allows accurate classification, prognostic evaluation, and surgical planning. Minor malformations may commonly be misdiagnosed.

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Section: Associations Of Fhmentioning

confidence: 95%

Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up

Bedoya¹,

Chauvin²,

Jaramillo

et al. 2015

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“…The skeletal pathologies are manifested by dysmorphic bony patterns, which, interestingly, correspond closely to the embryonic arterial in-growth pattern of the late embryonic limb, ascribed to Senior (Senior, 1919a(Senior, , 1919b(Senior, , 1985. Associated deficiencies of development of proper nutrient arteries, associated with retained embryonic arterial patterns, correspond to a proposed syndromic prototypical pattern of long bone reductions of the femur (profunda femoris artery) (Hootnick et al, 1983), fibula (peroneal artery) (Bedoya et al, 2015;Hootnick et al, 1980b;Huda et al, 2014), and midline metatarsals (medial deep plantar arterial arch) (Hootnick et al, 1980a(Hootnick et al, , 1983Levinsohn et al, 1991;Sarrafian & Kelikian, 2011).…”

Section: Vascular Injury As a Mechanism For Embryonic Bone Loss Andmentioning

confidence: 97%

“…Congenital arterial anomalies have been independently reported as associated with an asymmetric, noncontiguous pattern of congenital femoral (Chomiak et al, 2009), fibular (Bedoya et al, 2015;Hootnick et al, 1980b;Huda et al, 2014), and midline metatarsal (Hootnick, 2014;Hootnick, Packard, & Levinsohn, 1983;Hootnick et al, 1980a) long bone deficiencies. The skeletal pathologies are manifested by dysmorphic bony patterns, which, interestingly, correspond closely to the embryonic arterial in-growth pattern of the late embryonic limb, ascribed to Senior (Senior, 1919a(Senior, , 1919b(Senior, , 1985.…”

Section: Vascular Injury As a Mechanism For Embryonic Bone Loss Andmentioning

confidence: 99%

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

Hootnick

Vargesson

2018

Birth Defects Research

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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 explain the distribution of this triad of congenital skeletal reductions. These dysmorphologies are most accurately described as post-specification errors of limb development. Recognition of this distinctive model of limb maldevelopment demands further investigation to create a more exact taxonomy, one consistent with both clinical and molecular criteria. The established terminologies originated by Frantz and O'Rahilly should be reconsidered or abandoned. Designation of this clinical triad as a syndrome of proximal femur, fibula, and midline metatarsal dystrophisms initiates that endeavor.

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“…Although there were no supporting images, the authors alleged that there were absences of the ATA in two limbs and an anomalous arterial pattern in one limb (Caskey & Lester, 2002). An incomplete arteriographic study (Huda et al, 2014) of a single CSL with fibular deficiency contained a single inadequate image, which reveals radiographic absence of both the fibula and the PA. Other MR imaging of a variety of congenital lower limb deformities included five fibular deficient limbs (Laor, Jaramillo, Hoffer, & Kasser, 1996); the authors reported 8 out of 9 absent or abnormal popliteal trifurcations. One fibular deficient limb exhibited "vascular hypoplasia," confirmed by an unpublished angiography (Laor et al, 1996).…”

Section: Arteriography Of the Fibular Deficient Cslmentioning

confidence: 99%

Embryology of the lower limb demonstrates that congenital absent fibula is a radiologic misnomer

Hootnick

Levinsohn

2021

The Anatomical Record

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The congenitally shortened limb (CSL) with fibular deficiency or absence has historically been graded by plain radiography, while associated cartilaginous and arterial soft tissue anomalies have been comparatively neglected. Consistent pathological evidence of remnant cartilaginous bodies in place of the fibula presupposes earlier existence of a preformed cartilaginous template of the fibula. In complete fibular radiographic absences, often associated with midline metatarsal deficiencies, the two usual nutrient arteries to the fibula fail to form, as they normally would have, around the (16-18 mm stage) sixth embryonic week. The histopathology of fallow persisting fibular anlagen, in association with missing arteries and retained primitive arteries, suggests the anlage is a dystrophic, but otherwise normally prefigured, cartilaginous scaffold of the fibula. Thus, the widely employed term absent fibula, which has been grounded in plain radiography, is a misnomer. Additionally, since the metatarsals missing in congenitally shortened limb are midline, the related term, fibular hemimelia, is similarly inaccurate. A new taxonomy, based on embryological principles rather than radiographic appearance alone, will promote limb dystrophism as a more accurate term combining arrested embryonic vascular development and congenitally shortened limb of the lower extremity.

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Hemimelia and absence of the peroneal artery

Cited by 11 publications

References 12 publications

Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up

Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up

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

Embryology of the lower limb demonstrates that congenital absent fibula is a radiologic misnomer

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