Findings of fibular hemimelia syndrome with radiographically normal fibulae

Searle, Clark P.; Hildebrand, Randall K.; Lester, Edward L.; Caskey, Paul M.

doi:10.1097/01202412-200405000-00008

Cited by 6 publications

(13 citation statements)

References 10 publications

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“…Searle CP et al [9] proposed type 0 fibular hemimelia which had features of fibular hemimelia syndrome except Fig. 2 Fibular hemiemlia patient shows knee valgus deformity.…”

Section: Discussionmentioning

confidence: 99%

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Terminal hemimelia of the lower extremity: absent lateral ray and a normal fibula

Baek

Kim

Chung

et al. 2007

International Orthopaedics (SICO

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“…Searle CP et al [9] proposed type 0 fibular hemimelia which had features of fibular hemimelia syndrome except Fig. 2 Fibular hemiemlia patient shows knee valgus deformity.…”

Section: Discussionmentioning

confidence: 99%

“…This system divides fibular hemimelia into type IA, IB, II according to the severity of fibular hypoplasia and all require some element of fibular hypoplasia. Recently, Searle CP et al [9] proposed type 0 fibular hemimelia which has features of fibular hemimelia syndrome except for radiographically normal fibulae.…”

Section: Introductionmentioning

confidence: 99%

Terminal hemimelia of the lower extremity: absent lateral ray and a normal fibula

Baek

Kim

Chung

et al. 2007

International Orthopaedics (SICO

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“…The characteristically “anomalous limb” (Arnold, ) featuring fibular deficiency has become popularized as a designated entity, fibular hemimelia , despite variable structural alterations involving the entire lower limb (Freund, ; Kruger & Talbott, ; O'Rahilly, ). The fibular deficiency may even be described as radiographically normal (Searle, Hildebrand, Lester, & Caskey, ). It also may be overshadowed by other accompanying dysmorphic limb features, including clubfoot (Caskey & Lester, ), or by more severe ipsilateral femoral deficiencies (Bedoya et al, ).…”

Section: Introductionmentioning

confidence: 99%

Congenital fibular dystrophisms conform to embryonic arterial dysgenesis

Hootnick

2020

The Anatomical Record

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The congenital short limb (CSL) with fibular deficiency has traditionally been graded by plain radiography. The most popular orthopedic classification sorts the fibular dysmorphologies into three radiographic groupings: IA (thinned), IB (proximally truncated), or II (absent). In contrast, the soft tissues have been relatively neglected. Since bone formation of the fibula progresses from the anlage, a scaffolding cartilage mold intermediate, cartilage transformation to bone is dependent upon timely embryonic arterial invasion. Absences of the requisite arteries predicate specific skeletal dysmorphologies. The usual arterial supply of the fibula is comprised primarily of the anterior tibialis artery (ATA), which uniquely supplies the proximal portion of the fibula, and also joins the peroneal artery (PA) in supplying the mid to distal fibular shaft. Combinations of the two nutrient arteries allow four potential variations of fibular vascular supply, among which the ATA and PA conjoin to supply the normal fibula and variably supply the three dysmorphic fibular models. The IA and IB deformities conform, respectively, to the absences of the PA and the ATA. Combined ATA and PA absences present in the radiographically "absent" fibula. Thus, each of the four fibular (dys)morphologies conforms to a specific embryonic pattern of arterial development. The term "dystrophism" most accurately characterizes such malformed long bones.

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“…Feet manifesting fewer than the normal complement of five metatarsals (44-84%) (Rodriguez-Ramirez, Thacker, Becerra, Riddle, & MacKenzie, 2010; Thompson, Straub, & Arnold, 1957) have been clinically and radiographically identifiable in congenitally shortened limbs (CSL) exhibiting fibular deficiencies (Achterman & Kalamchi, 1979;Reyes et al, 2017). Isolated metatarsal reductions have also been identified in the feet of limbs with features of apparent congenital shortening despite radiographically normal fibulae (Baek, Kim, Chung, & Lee, 2008;Searle, Hildebrand, Lester, & Caskey, 2004). An inverse relationship between leg length discrepancy and the absence of metatarsal rays has been observed: the more normal the foot, the greater the (femoral) shortening (Kruger et al, 1961;Rodriguez-Ramirez et al, 2010).…”

Section: Midline Metatarsal Deficiencymentioning

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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Findings of fibular hemimelia syndrome with radiographically normal fibulae

Cited by 6 publications

References 10 publications

Terminal hemimelia of the lower extremity: absent lateral ray and a normal fibula

Terminal hemimelia of the lower extremity: absent lateral ray and a normal fibula

Congenital fibular dystrophisms conform to embryonic arterial dysgenesis

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

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