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Congenital Tibial Deficiency Review Article Congenital Tibial Deficiency Abstract Jody Litrenta, MD Congenital tibial deficiency is a rare condition characterized by partial Megan Young, MD to complete absence of the tibia, an intact but frequently overgrown fibula, variable degrees of knee deformity and function, and an John G. Birch, MD abnormal equinovarus foot. It can occur in isolation but also presents Matthew E. Oetgen, MD, MBA concurrently with other orthopaedic anomalies and syndromic conditions. Among these, congenital abnormalities of the hand and femur are most commonly observed. Many theories exist regarding its etiology and some genetic mutations have been identified; however, the underlying mechanism remains unknown. The prognosis and treatment differ based on the clinical severity. The goal of treatment is always to create a stable, functional limb, most commonly with amputation and use of prosthetics. Controversy exists over the level of amputation and the usefulness of reconstructive procedures to preserve the foot and limb length. Current investigation on this complex disorder is focused on identifying its origins and further developing a classification-based treatment algorithm to improve patient outcomes. ’ From the Children s National Health ongenital tibial deficiency oc- ectodermal ridge, the zone of polar- System, Division or Orthopaedic 1 Surgery and Sports Medicine, Ccurs in 1 in 1 million live births. izing activity (ZPA), and the Wnt Washington, DC (Dr. Oetgen, It exhibits a spectrum of disease, signaling pathway. Cell-mediated in- Dr. Young), NYULMC Hospital for Joint with varying amounts of tibia absence teractions among these centers occur Diseases, New York, NY (Dr. Litrenta), contributing to a range of associated between the 4th and 7th week of ges- and Texas Scottish Rite Hospital for Children, Dallas, TX (Dr. Birch). knee and foot abnormalities. Knee tation. The apical ectodermal ridge instability is frequently present, with modulates the proximal to distal Dr. Oetgen or an immediate family member serves as a board member, the most severe forms of deficiency development. The ZPA produces sonic owner, officer, or committee member lacking a patella and a knee extensor hedgehog (Shh) protein, which directs of the American Academy of mechanism. Very severe forms also anterior versus posterior orientation; Orthopaedic Surgeons, the Pediatric often have a skin dimple overlying the Orthopaedic Society of North this becomes radioulnar in the upper America, and the Scoliosis Research proximal tibia and accompanying limb and the tibia and fibula in the Society. Dr. Birch or an immediate knee flexion contracture. In less severe lower limb. The dorsal limb bud se- family member has received royalties cases, the proximal tibia and knee cretes Wnt protein, which distinguishes from Orthofix. Neither of the following extensor mechanism are present and 6 authors nor any immediate family dorsoventral development. member has received anything of the knee is stable. The fibula is typi- Most limb deficiencies are present value from or has stock or stock cally intact, and the foot position by the 7th week of gestation. The options held in a commercial company varies in relation to the knee, with upper limb develops after day 28 and or institution related directly or supination and rigid equinovarus of indirectly to the subject of this article: the lower limb by day 31, and both the foot most commonly observed.1-5 Dr. Litrenta and Dr. Young. progress proximal to distal. Upper J Am Acad Orthop Surg 2019;27: and lower limb abnormalities appear e268-e279 Embryology after days 35 and 37, respectively. DOI: 10.5435/JAAOS-D-16-00838 Although the exact cause and timing In normal embryologic development, of tibial deficiency remain unknown, Copyright 2018 by the American Academy of Orthopaedic Surgeons. limb bud orientation progresses the responsible insult likely occurs under three influences: the apical during this phase.7 e268 Journal of the American Academy of Orthopaedic Surgeons Copyright © the American Academy of Orthopaedic Surgeons. Unauthorized reproduction of this article is prohibited. Jody Litrenta, MD, et al One theory for the cause of limb Table 1 deficiency is vascular insufficiency. 8 Percentage of Observed Associated Pathology in the Two Largest Series Levinsohn et al reported on tibial of Congenital Tibial Deficiency and fibular deficiency and clubfoot. 2 5 In all cases, they found similar pat- Schoenecker et al Clinton and Birch Associated Pathologies (57 pts) (%) (95 pts) (%) terns of arterial deficiencies, involv- ing the anterior tibial and dorsalis Overall 60 78 pedis artery. Vascular insufficiency can Bilateral 25 32 create either pre- or post-specification Upper extremity 30 33 defects, depending on the timing in Cleft hand 9 16 relation to mesenchymal differentia- Radial deficiency 1 8 tion. Post-specification defects leave a Other 20 9 rudimentary structure, which, the au- Lower extremity 48 96 thors postulate, explains tibial defi- Deficient lateral rays 9 21 ciency given the presence of a partially Medial ray/great toe duplication — 14 formed proximal tibia. However, Hip dysplasia or dislocation 18 11 others speculate a pre-specification Congenital femoral deficiency 9 11 cause, because the limb bud starts off Coxa valga 12 — in close proximity to the mesenchyme Other — 40 of other vital organs, providing an Visceral NAa 43 explanation for the coexistence of other Cardiac — 21 systemic developmental anomalies.3 Gastrointestinal — 15 Genitourinary — 7 Spine 21 12 Genetic Basis a Visceral organ involvement not reported by Schoenecker et al. No specific gene mutation has been identified as the cause of congenital tibial deficiency. The Shh pathway and foot syndrome, and tibial hemimelia- most common hip abnormality was has been implicated in syndromic micromelia-trigonobrachycephaly congenital dislocation (10 patients), forms.9 Recent research has identified syndrome. Among these disorders, a followed by coxa valga and proxi- a 5 kb deletion within the DNA of the wide range of clinical expression ex- mal focal femoral deficiency. Hand Shh repressor Gli3 protein in two ists, supporting variable penetrance. deformities were also prevalent, patients with bilateral tibial defi- For example, in a series of 37 patients occurring in 17 patients (30%). ciency, resulting in unrestricted Shh with tibial hemimelia–split hand and Spine abnormalities were present in activity outside the ZPA.10 This study foot syndrome, severity ranged from 12 patients (21%), including 5 with also noted that the genetic deletion isolated digit hypoplasia or syndac- hemivertebrae, as well as hypoplastic occurred only on the maternal allele, tyly to complete bilateral tibia agen- vertebrae, scoliosis, and spina bifida. suggesting autosomal-dominant inher- esis with split hands.15 Interestingly, 20 patients (35%) itance with incomplete penetrance.10 reported a family history of con- However, both autosomal-dominant genital anomalies ranging from hand and autosomal-recessive inheritance Associated Pathology deformities (10 patients) to congen- models have been described,11-13 and ital tibial deficiency (5 patients). case reports of additional chromo- Other congenital abnormalities are Most of these were in first-degree somal abnormalities exist.14 There observed with high frequency. Con- relatives. are likely multiple genetic alterations genital hip dislocation, vertebral A more recent study by Clinton and and inheritance patterns responsible malformations, bifurcation of the Birch5 details a longitudinal series of for tibial deficiency. femur, imperforate anus, and hypo- 95 patients spanning 37 years at Syndromic forms of tibial deficiency spadias have been reported.2,3,16 In Texas Scottish Rite Hospital. Among also exist, with four known associated an older series of 57 patients studied these patients, 79% had other autosomal-dominant types: Warner’s by Schoenecker et al,2 34 patients abnormalities, consistent with pre- Syndrome, tibial hemimelia diplopodia (60%) had an associated abnormal- vious reports. These were mostly syndrome, tibial hemimelia–split hand ity of the hip, hand, or spine. The other lower extremity anomalies, March 15, 2019, Vol 27, No 6 e269 Copyright © the American Academy of Orthopaedic Surgeons. Unauthorized reproduction of this article is prohibited. Congenital Tibial Deficiency Table 2 cation based on their experience. They simplified the Jones classifica- Number of Observed Additional Upper Extremity, Lower Extremity, and Spine Abnormalities, Organized by Jones Type in 71 Limbs Described by tion into three groups, omitting Schoenecker et al2 Jones type 3 patients because this form was never encountered at their Upper Extremity, Lower Extremity, Spine, Type No. (%) No. (%) No. (%) Total Limbs institution. Arguing that 15% of patients could not be described ac- 1A 6 (18) 12 (36) 5 (15) 33 cording to the Jones method, Weber 1B 1 (17) 3 (50) 2 (33) 6 created a more elaborate classifica- 2 2 (12) 6 (37) 3 (19) 16 tion, incorporating seven categories 3 3 (43) 1 (14) 1 (14) 7 from “best” to “worst” and 5 sub- 4 4 (44) 1 (11) 1 (11) 9 categories based on the presence or Totals 16 (23) 22 (31) 12 (17) 71 absence of a tibia cartilaginous anlage, which affects reconstruction. Type 1 is hypoplastic, type 2 is distal Table 3 diastasis, type 3 is distal aplasia, Number of Observed Additional Upper Extremity, Lower Extremity, type 4 is proximal aplasia, type 5 Visceral Organ, and Spine Abnormalities, Organized by Jones Type in 125 is bifocal
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