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Year : 2014  |  Volume : 11  |  Issue : 1  |  Page : 3-7
Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter


1 Department of First Medical, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital; Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria
2 Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria
3 Department of First Medical, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital, Vienna, Austria

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Date of Web Publication20-Mar-2014
 

   Abstract 

Background: Tibial aplasia is of heterogeneous aetiology, the majority of reports are sporadic. We describe the reconstruction procedures in two subjects - a daughter and father manifested autosomal dominant (AD) inheritance of the bilateral tibial aplasia and split hand-foot syndrome. Materials and Methods: Reconstruction of these patients required multiple surgical procedures and orthoprosthesis was mandatory. The main goal of treatment was to achieve walking. Stabilization of the ankle joint by fibular-talar-chondrodesis on both sides, followed by bilateral Brown-procedure at the knee joint level has been applied accordingly. Results: The outcome was with improved function of the deformed limbs and walking was achieved with simultaneous designation of orthotic fitting. Conclusion: This is the first study encompassing the diagnosis and management of a father and daughter with bilateral tibial aplasia associated with variable split hand/foot deformity without foot ablation. Our patients showed the typical AD pattern of inheritance of split-hand/foot and tibial aplasia.

Keywords: Orthoprothesis, reconstruction, split hand-foot-tibial aplasia syndrome

How to cite this article:
Al Kaissi A, Ganger R, Klaushofer K, Grill F. Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter. Afr J Paediatr Surg 2014;11:3-7

How to cite this URL:
Al Kaissi A, Ganger R, Klaushofer K, Grill F. Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter. Afr J Paediatr Surg [serial online] 2014 [cited 2020 May 28];11:3-7. Available from: http://www.afrjpaedsurg.org/text.asp?2014/11/1/3/129201

   Introduction Top


Bilateral tibial aplasia combined with split hand/split foot deformity is a rare malformation. The preaxial tibial deficiency may be limited to isolated hypoplasia of the halluces, but more severe limb deficiencies such as peromelia and transverse hemimelia have been reported. [1],[2]

Tibial hemimelia is characterised by partial or complete absence of the bone. It usually occurs as a solitary anomaly or may be part of syndromic complex associations such as Langer-Giedion or tricho-rhino-phalangeal syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, Wolfgang-Gollop syndrome or tibial agenesis-ectrodactyly syndrome. [3],[4] There were several classification systems applied such as Kalamchi and Dawe, [5] Weber [6] and Jones et al. [7] Believed that these earlier classifications were no longer useful for present-day requirements and suggested a new classification reflecting the severity of the morphology of the condition and the importance of any cartilaginous anlage.

Major reduction defects of the tibia were treated by amputation and prosthetic fitting. However, Weber [6] reported impressive results of limb reconstruction in children with tibial aplasia.

Limb reconstruction consists of transferring the upper end of the fibula to the intercondylar notch of the femur and correcting the equinovarus deformity of the ankle by centralising the fibula into the talus. Furthermore, it may be necessary to ablate the foot and hence that the child becomes a below-knee amputee whose knee joint needs external support. [5],[9],[10]


   Clinical Reports Top


Patient I

A 2-month-old girl was referred due to bilateral tibial aplasia associated with bilateral split hand-foot deformity [Figure 1]. Review of radiographs taken at birth showed; right hand preservation of the thumb and index finger only and the left hand showed hypoplasia of the first and second fingers and aplasia of the third finger [Figure 2]. Lower limb radiograph showed severe flexion deformity and bilateral club foot secondary to bilateral tibial aplasia [Figure 3]. The anomalies appeared to segregate as an autosomal dominant (AD) trait. The expression of the phenotype was variable. The father manifested bilateral tibial aplasia associated with split foot and sparing the hands.
Figure 1: A 2-months-old girl was referred because of bilateral tibial aplasia associated with bilateral split hand-foot deformity. She showed severe flexion deformity and bilateral equinovarus deformity of the ankles. The affected legs are rotated internally and the ventral surface of foot faces
the opposite leg


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Figure 2: Right hand preservation of the thumb and index fi nger only and
the left hand showed hypoplasia of the fi rst and second fi ngers and aplasia
of the third fi nger


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Figure 3: Lower limb radiograph showed severe flexion deformity and bilateral equinovarus deformity of the ankles secondary to bilateral tibial aplasia. The affected legs are rotated internally and the ventral surface of
foot faces the opposite leg


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She was treated at age of 2 months by means of a bilateral percutaneous tenotomy of the Achilles tendon preceded by a serial above-knee casts and followed by casting and bracing. Note that the right foot showed preservation of the big and fifth toe respectively and the left foot showed aplasia of the third and fourth toes [Figure 4]. At the age of 4 months and due to her simultaneous occurrence of bilateral tibial aplasia and clubfeet, we performed bilateral correction. The latter was achieved through a release of the connected distal parts of the fibulae with these of the talus and calcaneus by removing a piece of the cartilage from the distal fibular epiphyses and from the proximal parts of the talus to approach for an optimal plantigrade position for the fibular-talar-chondrodesis. A shortening osteotomy of the fibular diaphyses fixed with K-wires (the chondrodeses were fixed with longitudinal K-wires above the knee cast) was mandatory. At the age of 5-months a Brown-procedure was performed on the right side on the lower limb the proximal fibula was centralised to the femoral notch along with a shortening osteotomy of the femoral diaphysis fixed with a plate was a required procedure and the extensor apparatus was reconstructed with the iliotibial band. In order to avoid posterior dislocation of the fibula a posterior capsulotomy of the knee was carried out. In addition, a release of the peroneal nerve was carried on as well to decrease tension. The position of the knee joint was fixed with a K-wire and a cast, thereafter [Figure 5].
Figure 4: AP radiographs at age of 2 months of showed a bilateral percutaneous tenotomy of the Achilles tendon preceded by a serial aboveknee casts and followed by casting and bracing. Note that the right foot
showed preservation of the big and fifth toe respectively and the left foot showed aplasia of the third and fourth toes


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Figure 5: At the age of 6 months Brown-procedure was performed on the left side, albeit in a modified way, i.e., a shortening osteotomy of the femur was considered in light of complete absence of the extensor apparatus. Therefore, centralisation of the proximal fibula onto the femoral notch (we used iliotibial notch as a cruciate ligament) a tunnel was drilled from the femoral notch towards the medial femoral condyle aiming to fix the band. Simultaneously, the quadriceps muscle was reconstructed with a part of the iliotibial band. The child could walk nicely using orthoprosthesis and a rollator. Recently her range of motion left knee S 0-0-75°, lack of extension right knee: S 0-40°-130°. Plantigrade left foot, tendency to adduction on
the right side


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At the age of 6 months Brown-procedure was performed on the left side, albeit in a modified way, i.e., a shortening osteotomy of the femur was considered in light of complete absence of the extensor apparatus. Therefore, centralization of the proximal fibula onto the femoral notch (we used iliotibial notch as a cruciate ligament) a tunnel was drilled from the femoral notch towards the medial femoral condyle aiming to fix the band. Simultaneously, the quadriceps muscle was reconstructed with a part of the iliotibial band. The child could walk nicely using orthoprosthesis and a rollator [Figure 6]. Recently, her range of motion left knee S 0-0-75°, lack of extension right knee: S 0-40°-130°. Plantigrade left foot, tendency to adduction on the right side. A surgical correction of the hand deformity is planned by our plastic surgeon. Family history showed a similarly affected father. The patient and her father underwent a series of investigations, including complete blood cell counts, urine biochemistry, alkaline phosphatase and chromosomal analysis, renal function tests as well as tests, which aimed to test calcium, phosphorus and vitamin D metabolism, were all normal. Hormonal investigations included thyroid hormones; adrenocorticotropic hormone and growth hormone were negative as well.
Figure 6: The patient is able to walk nicely with the use of an above knee orthoprothesis

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Patient II

A 37-year-old man (the father of patient I) was born with bilateral tibial aplasia and split foot, though his hands were spared. He was operated on at the age of 3 months through centralisation of the distal fibula to the talus head left side. At 2 weeks later, another centralisation (right side) of the distal fibula to the talus was performed. At the age of 2 years, Brown-procedure was applied to the left knee and similarly thereafter and at the age of 5-years Brown-procedure was applied to the right knee respectively [Figure 7]. Above knee orthoprothesis was designed for the father [Figure 8].
Figure 7: The father was operated on at the age of 3 months through centralisation of the distal fibula to the talus head left side. At 2 weeks later another centralisation (right side) of the distal fibula to the talus was performed. At the age of 2 years Brown-procedure was applied to the left knee and similarly thereafter and at the age of 5-years Brown-procedure was applied to the right knee respectively

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Figure 8: Above knee orthoprothesis was designed for the father as well

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   Discussion Top


The upper and lower limb buds appear 4 weeks after the last ovulation from which an embryo has been developed. The limbs form rapidly during the subsequent 3 weeks in a proximo-distal sequence hence that the upper arm and thigh appear before the forearm and leg and in turn, before hand and foot. The mesenchymal tissue condenses into skeletal elements, which chondrify followed by ossification and differentiation of joints. By the 7 th post-ovulatory week, the embryonic skeleton is well-formed. Any adverse factors that might affect the development of the limbs are likely to have acted between the third and seventh intrauterine week. Ectrodactyly is a deformity in which there is congenital absence of one or more of the second, third, or fourth rays. [10] Walker and Coldius [12] believe that there is a centripetal suppression of the developing hand plate. In the simplest form there is a cleft with no missing tissue. Progressively more severe deformity affects first the middle and then the index ray, followed by successive suppression of ulnar rays, which tend to be fused together to give a lobster-claw appearance. Further ulnar suppression results in an essentially monodactylous hand and finally, suppression of all digits. [12]

Tibial aplasia is of a heterogeneous aetiology, though the majority of the reports are sporadic cases, but nevertheless apparent AD families with or without ectrodactyly and other associated limb anomalies also have been reported. Majewski et al. [3] in their study have reported 34 affected individuals from six families with tibial aplasia and a split hand/foot deformity. Totally 99 familial cases were reviewed from the literature. Expression appeared to be variable with some cases manifesting with only hypoplastic great toes and the most severe cases having transverse hemimelia of all four limbs. Some cases had hypoplastic ulnae, bifurcation of the femurs, absent patellae or postaxial polydactyly. Cup-shaped ears appear to be a further manifestation of the condition. Matsuyama et al. [13] have reported two Japanese brothers with tibial hemimelia born to unrelated, phenotypically normal parents. The type of tibial hemimelia and associated malformations of hands and feet was quite different between the brothers. The findings in the elder brother were compatible with Gollop complex and in the younger brother with split foot/tibial defects syndrome. A study by Majewski et al. [14] further discuss the inheritance and suggest that manifestation in putative recessive families does not differ from dominant families. Naveed et al., (2006) reported a huge pedigree with 23 affected persons from the United Arab Emirates. The pattern of inheritance fitted best AD with reduced penetrance. Linkage with GLI3, SHH, Langer-Giedion and split hand/split foot III was excluded. Kaissi et al. [15] described ectrodactyly and tibial aplasia in a - 3 generation Tunisian family in connection with hypohydrotic ectodermal dysplasia.

Kalamchi and Dawe [5] recognized three types of tibial deficiency: Type I with total absence of the tibia; Type II with the absence of the distal part of the tibia; and Type III with distal deficiency and tibio-fibular diastasis. The child is born with a varus or calcaneovarus of the foot and short limb. When there is Type II lesion with partial absence of the tibia and preservation of the proximal end, the knee is normal. When there is Type I lesion with complete absence of the tibia, the upper end of the fibula at first articulates with the distal end of the lateral femoral condyle but, within the 1 st month of life, it starts to migrate proximally and lateral to the femur with growth and migrates even more after the child begins to try to walk on the limb. There is flexion contracture, sometimes with popliteal webbing and gross lateral instability of the knee. There are dimples over the front of the flexed knee and over prominent lower end of the fibula. The knee extensor mechanism is often deficient with a poor quadriceps and a small absent patella. The floor is fixed in varus and in rigid. Anatomical discussion by Williams et al. [8] showed that there is always congenital fusion of the talo-calcaneal joint, even though radiologically the two bones appear to be distinct. The foot may show augmentation varying from polydactyly to diplopodia, the first metatarsal may be short and there may be missing medial ray.

When the upper part of the tibia is present, the knee flexion deformity is less marked or absent and there is usually adequate knee extensor activity. The fibula is not dislocated from the tibia or the femur at birth, but it soon rides upwards, dislocating at the superior tibio-fibular joint and later, when walking begins, it may dislocate to the lateral side of the lower end of the femur. The tibial fragment may be moderately large with a well-developed upper tibial epiphysis, or it may be small with late ossification, but its presence as a cartilagineous anlage is indicated by the normal ossification of the epiphysis. Magnetic resonance imaging may be of value in demonstrating the presence of an anlage. [8],[9]

Most patients with complete tibial hemimelia (Jones type 1a) require knee disarticulation, which usually provides good functional results. Centralisation of the fibula combined with a Syme's amputation (i.e., the Brown-procedure) has been frequently been used to treat this deformity by Brown et al. [16] However, this approach is prone to failure and the patient often requires a subsequent knee disarticulation Loder and Herring. [9] and Pattinson and Fixsen et al. [10] Schoenecker et al. [17] stated that most failures are due to marked knee instability and the progressive development of knee flexion contractures due to unopposed hamstring pull.

Hall [18] has stated that the Brown-procedures [16] are indicated only if the patient has a well-developed distal femoral segment. A functional quadriceps mechanism, preferably a patella and no evidence of a proximal tibia (by current imaging techniques) are positive markers. Christini and Kumar [19] emphasised that when these criteria as described by Hall [18] are met pre-operatively, then, the procedure has been described as successful. Kruger. [20] in their study have reported that patients with Type I tibial hemimelia rarely have active knee extension. In most cases, there is a gradual decline in knee function and recurrent deformity often requires repeated surgical revisions and eventual amputation.


   Summary Top


Limb deficiency disorders are aetiologically heterogeneous and represent one example of debilitating chronic physical conditions affecting children. Bilateral tibial aplasia combined with variable hand/foot malformation in two subjects with typical familial occurrence is described. AD was the inheritance pattern encountered. Reconstruction was required through multiple surgical procedures and seldom obviated the need for orthoprosthesis. Our patients represent subtype 1a of Jones system classification, in which the tibia is completely absent and the ossific nucleus of the distal femoral epiphysis has not appeared.

 
   References Top

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3.Majewski F, Küster W, ter Haar B, Goecke T. Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. Hum Genet 1985;70:136-47.  Back to cited text no. 3
    
4.Frantz CH, O'Rahilly R. Congenital skeletal limb deficiencies. J Bone Joint Surg Am 1961;43:1202-24.  Back to cited text no. 4
    
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13.Matsuyama J, Mabuchi A, Zhang J, Iida A, Ikeda T, Kimizuka M, et al. A pair of sibs with tibial hemimelia born to phenotypically normal parents. J Hum Genet 2003;48:173-6.  Back to cited text no. 13
    
14.Majewski E, Goecke T, Meinecke P. Ectrodactyly and absence (hypoplasia) of the tibia: Are there dominant and recessive types? Am J Med Genet 1996;63:185-9.  Back to cited text no. 14
    
15.Kaissi AA, Ghachem MB, Necib MN, Chehida FB, Karoui H, Baraitser M. Hypohidrotic ectodermal dysplasia with tibial aplasia. Clin Dysmorphol 2002;11:175-8.  Back to cited text no. 15
    
16.Brown F, Pohnert W. Construction of a knee joint in meromelia tibia (congenital absence of tibia): A 15-year follow up study. J Bone Joint Surg Am 1972;54:1333.  Back to cited text no. 16
    
17.Schoenecker PL, Capelli AM, Millar EA, Sheen MR, Haher T, Aiona MD, et al. Congenital longitudinal deficiency of the tibia. J Bone Joint Surg Am 1989;71:278-87.  Back to cited text no. 17
    
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19.Christini D, Kumar SJ. Fibular transfer in tibia hemimelia. A follow-up study. J Assoc Child Prosthet Orthot Clin 1991;26:8.  Back to cited text no. 19
    
20.Kruger L. Lower limb deficiencies. In: Bowker J, Michael J, editors. Atlas of Limb Prosthetics. Surgical, Prosthetic and Rehabilitation Principles. St. Louis: Mosby-Year Book; 1992. p. 802.  Back to cited text no. 20
    

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Correspondence Address:
Ali Al Kaissi
Department of First Medical, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, Hanusch Hospital, Vienna
Austria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0189-6725.129201

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]



 

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