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CASE REPORT
Year : 2017  |  Volume : 17  |  Issue : 1  |  Page : 53-56

Congenital Type I (Ia and Ib) and Type II intercalary longitudinal tibial hemimelia: A report of four cases


Department of Orthopaedic Surgery, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India

Date of Web Publication3-Jan-2017

Correspondence Address:
Dr. Mohd Faizan
Department of Orthopaedic Surgery, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh - 202 002, Uttar Pradesh
India
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DOI: 10.4103/1319-6308.197472

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  Abstract 

Congenital longitudinal tibial hemimelia is a rare disorder of lower limbs. This disorder is usually associated with skeletal and extraskeletal congenital malformation. The treatment depends on the type of tibial hemimelia. Multiple reconstructive surgeries and the availability of suitable prosthesis have an important role in treatment options. Here, we are reporting two cases of bilateral congenital Type I, one case of unilateral Type I, and one case of bilateral Type II intercalary longitudinal tibial hemimelia with one of them also had associated bilateral lobster claw hand.

  Abstract in Arabic 

أنواع القطع الطولي الخلقي النصفي الأقحم لعظم الساق الأعظم النوع I ( Ibو Ia) والنوع :IIتقرير عن اربع حالات
يعدّ القطع الطولي الخلقي النصفي لعظم الساق الاعظم من الاعتلالات النادرة للأطراف السفلى. و تترافق هذه العلة في العادة مع تشوهات خلقية للهيكل العظمي وخارج الهيكل العظمي. يعتمد العلاج على نوع القطع النصفي لعظم الساق الاعظم. هناك دور هام لعمليات إعادة البناء المتعددة وتوفر التقويم المناسب في خيارات العلاج. وفي هذا البحث نعالج حالتين خلقيتين من النوع I ثنائية الجانبين، الحالة الأولى من نوع I أحادية الجانب، وإحدى الحالات ثنائية الجانب من النوع IIللقطع الطولي الخلقي النصفي لعظم الساق الاعظم احداهما يرافقها مخالب جراد البحر بالجانبين باليد.


Keywords: Congenital, intercalary, lobster claw hand, prosthesis, tibial hemimelia


How to cite this article:
Faizan M, Jilani LZ, Siddiqui YS, Ahmed S, Abbas M. Congenital Type I (Ia and Ib) and Type II intercalary longitudinal tibial hemimelia: A report of four cases. Saudi J Sports Med 2017;17:53-6

How to cite this URL:
Faizan M, Jilani LZ, Siddiqui YS, Ahmed S, Abbas M. Congenital Type I (Ia and Ib) and Type II intercalary longitudinal tibial hemimelia: A report of four cases. Saudi J Sports Med [serial online] 2017 [cited 2019 Aug 20];17:53-6. Available from: http://www.sjosm.org/text.asp?2017/17/1/53/197472


  Introduction Top


Congenital tibial hemimelia is a rare congenital skeletal disorder, and definitely the most uncommon of those of the lower limb.[1] Congenital absence of the tibia may be total or partial, unilateral or bilateral. In congenital tibial hemimelia, the fibula is usually intact. The specific cause for tibial hemimelia is still unknown. Tibial hemimelia may occur in isolation or may be associated with other skeletal and extraskeletal congenital anomalies.[1]

Plain radiography is diagnostic for tibial hemimelia and should be done early for classification and proper management.

There are various classifications for tibial hemimelia but most widely accepted classification is proposed by Jones. Jones classified tibial hemimelia into four types, based on radiographic features present during infancy. In Type I, the tibia cannot be seen on radiographs at birth. In subtype IA, the tibia is completely absent with dysplastic distal femur.[2]

Here, we are reporting four cases of congenital intercalary longitudinal tibial deficiency. One case with bilateral Type I (Jones's Type IA left side and Type IB on right side) associated with bilateral lobster claw hands, second case of isolated bilateral Type I (Jones's Type IA left side and Type IB on right side), third case of bilateral Type II, and fourth case of unilateral Type I congenital intercalary longitudinal tibial deficiency.


  Case Reports Top


Case report 1

A 5-month-old male baby delivered by full term normal vaginal delivery presented to us with complaints of deformities at hands and legs. There was no history of consanguinity or fetotoxic drug intake. There was no family history of similar disease.

On examination his both legs were short, flexion deformity was present at both knees, both feet were in supination and varus, sole of the feet were facing toward perineum. Quadriceps mechanism was insufficient bilaterally. Distal end of both fibula was prominent, and single bone was palpable in both legs. Median cleft was present in both hands. Middle finger was absent in both hands. Syndactyly of thumb and index finger was present in the left hand [Figure 1]. Distal neurovascular status was normal. Radiographs (anteroposterior [AP] view) of both hands and both knees including hips and ankle were taken, and diagnosis of bilateral congenital Type I (IA on the right side and IB on the left side) intercalary longitudinal tibial hemimelia with bilateral lobster claw hand was made [Figure 2].
Figure 1: Clinical photograph (a) shows flexion at both knees with both feet in supination and varus, sole faces toward perineum, prominent lateral malleolus bilaterally. (b) Right hand-median cleft with absent middle finger (c) Left hand-median cleft with absent middle finger, syndactyly of thumb and index finger

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Figure 2: Radiograph (a) shows absent right tibia with thickened fibula bilaterally with dysplastic distal end right femur. (b and c) described together there is aplasia of all the phalanges of the middle finger bilaterally with aplasia of the third metacarpal and syndactyly in the left hand with split hand configuration bilaterally suggesting lobster claw hand

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Case report 2

A 7-day-old male baby delivered by full term normal vaginal delivery was referred to us with complaints of bilateral leg shortening and deformity at knee and feet present since birth. There was no history suggestive of consanguinity among parents. There was no history of any fetotoxic drug intake or radiation exposure. There was no similar congenital malformation in any other family member.

On examination, baby was crying and active. All clinical findings were similar to the previous case except for the absence of cleft hands and presence of dimple on anterolateral aspect of left proximal leg [Figure 3]. Radiographs (AP and lateral views) were taken and diagnosis of bilateral congenital Type I (IA on the left side and IB on the right side) intercalary longitudinal tibial hemimelia was made [Figure 4].
Figure 3: Clinical photograph (a) shows flexion and adduction at both knees with both feet in supination and varus, sole faces toward perineum (b) shows prominent lateral malleolus bilaterally with skin dimple on anterolateral aspect of left knee

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Figure 4: Radiographs (a) shows absent epiphysis of left femur (b) shows absent right tibia with thickened fibula and normal tarsals and metatarsals (c) shows absent left tibia with thickened fibula and normal tarsals and metatarsals, absent epiphysis of left femur

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Figure 5: Radiographs (a) shows ossified proximal tibia with deficient distal tibia with deformed thickened fibula bilaterally and normal tarsals, metatarsals. Radiographs (b and c) shows absent tibia with thickened fibula on the right leg and normal tarsals, metatarsals

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Case report 3

A 1-month-old female baby delivered by full term normal vaginal delivery was referred to us with complaints of shortening of legs and deformity at knee and feet. There was no history of any fetotoxic drug intake, consanguineous marriage, or radiation exposure.

On the examination, baby was crying and active. All clinical findings were similar to the case 2 except for the absence of dimple on anterolateral aspect of left proximal leg radiographs (AP) were taken and diagnosis of bilateral congenital Type II intercalary longitudinal tibial hemimelia was made [Figure 5]a.

Case report 4

An 8-year-old male child delivered by full term normal vaginal delivery was referred to us with complaints of shortening of the right leg and deformity at right knee and foot. There was no history of any fetotoxic drug intake, consanguineous marriage, or radiation exposure.

On examination, right leg was shorten, knee was flexed, foot was supinated and inverted. Quadriceps mechanism was insufficient on the right side. Distal end of the right fibula was prominent, and single bone was palpable in both right legs. Radiographs (AP and lateral views) were taken, and diagnosis of congenital Type I (IB on the right side) intercalary longitudinal tibial hemimelia right leg was made [Figure 5]b and c.

In all cases, all other systemic examinations were normal. Ultrasonography of whole abdomen and echocardiography were done to rule out the cardiac or renal defects. Ultrasonography of knees was done in all Type I cases and shows no remnant of proximal tibia. All blood investigations were normal.

In our cases, we explained the outcome of multiple reconstructive surgeries in terms of duration and failure to the parents. We classified our cases as John's Type I (IA and IB), and Jone's Type II. In John's Type I (IA and IB), best treatment for these cases is knee disarticulation and for Type II case proximal tibiofibular synostosis with midfoot amputation or Syme amputation is preferred treatment. We advised the parents for passive stretching physiotherapy, and regular follow-up every 3 months, and we have planned bilateral knee disarticulation followed by above knee prosthesis in case 1 and case 2 with reconstruction of lobster claw hand in the first case after the age of 1 year after their consent. For case 3, we planned for proximal tibiofibular synostosis with midfoot amputation or Syme amputation and case 4 right side knee disarticulation with above knee prosthesis.


  Discussion Top


Congenital absence of the tibia is defined as "the absence at birth of the tibia in whole or in part, the lower limb being nevertheless present with its different segments well developed in their essential parts."[1] Total absence is more common than partial; bilateral absence is less common than unilateral.

Tibial hemimelia may also constitute a part of a more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex and triphalangeal thumb-polysyndactyly syndrome.[3] Other common associated anomalies are skeletal abnormalities of the foot, polydactyly, femoral bifurcation, cleft hand, urogenital abnormalities, and radial hemimelia.[3] Case 1 has associated bilateral cleft hand. The etiology for this anomaly remains uncertain. Tibial development defect in valproic acid embryopathy has also been reported.[4] Its clinical presentation is sporadic. Familial cases of autosomal dominant[5] and recessive[6] inheritance have been reported.

Treatment of patients with tibial deficiencies depend on the quadriceps efficiency, degree of knee flexion contracture, radiological deficiency of tibia, cultural acceptance, parents acceptance for multiple surgeries or amputation, cost of treatment. Clinical evaluation of the quadriceps extensor mechanism is important because this has significant prognostic value regarding the potential for reconstruction of the knee.

In Type 1A, knee disarticulation with best prosthetic fitting gives excellent results.[7],[8],[9] In Type 1B, a functional knee joint exists, and knee disarticulation is not required if the quadriceps mechanism is present and functional. A proximal tibiofibular synostosis combined with foot amputation[7],[8] or distal reconstruction[9] is the treatment of choice. All the treatment options were discussed with parents in detail. We advised passive stretching physiotherapy to avoid further soft tissue contracture and regular follow-up.


  Conclusion Top


Radiographic assessment should be done as early as possible once the clinical diagnosis of tibial deficiency is made for proper classification. In Type I congenital tibial deficiencies, knee disarticulation remains the treatment of choice. Tibiofibular synostosis with amputation of foot or with reconstruction is main treatment for other types of tibial deficiency. Counseling of parents is a must before treatment. We should discuss the options of amputation and all other methods of limb reconstruction with the parents in detail.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Evans EL, Smith NR. Congenital absence of tibia. Arch Dis Child 1926;1:194-229.  Back to cited text no. 1
    
2.
Jones D, Barnes J, Lloyd-Roberts GC. Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management. J Bone Joint Surg Br 1978;60:31-9.  Back to cited text no. 2
    
3.
Wolfgang GL. Complex congenital anomalies of the lower extremities: Femoral bifurcation, tibial hemimelia, and diastasis of the ankle. Case report and review of the literature. J Bone Joint Surg Am 1984;66:453-8.  Back to cited text no. 3
    
4.
Alessandri JL, Isidor B, David A, Martin-Coignard D, Ghazouani J, Ramful D, et al. Tibial developmental field defect in valproic acid embryopathy: Report on three cases. Am J Med Genet A 2010;152:2805-9.  Back to cited text no. 4
    
5.
Clark MW. Autosomal dominant inheritance of tibial meromelia. Report of a kindred. J Bone Joint Surg Am 1975;57:262-4.  Back to cited text no. 5
    
6.
Lenz W. Genetics and limb deficiencies. Clin Orthop 1980;148:9-17.  Back to cited text no. 6
    
7.
Fernandez-Palazzi F, Bendahan J, Rivas S. Congenital deficiency of the tibia: A report on 22 cases. J Pediatr Orthop B 1998;7:298-302.  Back to cited text no. 7
    
8.
Schoenecker PL. Tibial deficiency. In: Herring JA, Birch JG, editors. The Child with a Limb Deficiency. Rosemont, IL: American Academy of Orthopedic Surgeons; 1998. p. 209.  Back to cited text no. 8
    
9.
Javid M, Shahcheraghi GH, Nooraie H. Ilizarov lengthening in centralized fibula. J Pediatr Orthop 2000;20:160-2.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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