Ipsilateral teratologic high hip dislocation, femoral hypoplasia and below-knee hemimelia associated with contralateral fibular hemimelia: report of a case with functional result

Case report 77

Ipsilateral teratologic high hip dislocation, femoral

hypoplasia and below-knee hemimelia associated with

contralateral fibular hemimelia: report of a case with

functional result

Alper Kaya

, Berk Guclu

, Hakan Omeroglu

and Yucel Tumer

In this case report, we present a patient with right teratologic high hip dislocation, femoral hypoplasia and below-knee hemimelia associated with left fibular hemimelia. Combined open reduction, proximal femoral osteotomy and a Dega acetabuloplasty were performed in the right hip. Closed tibial wedge osteotomy and centralization of the foot with lateral release and Achilles tendon lengthening were performed for the left side. The patient was able to walk with her prosthesis successfully within the first six postoperative months. J Pediatr Orthop B 17:77–80 c _{2008 Wolters Kluwer Health | Lippincott}

Williams & Wilkins.

Journal of Pediatric Orthopaedics B2008, 17:77–80

Keywords: below-knee hemimelia, femoral hypoplasia, fibular hemimelia, high hip dislocation

a_{Department of Orthopaedics, Ufuk University,}b_{Department of Orthopaedics,}

Bayindir Hospital, Ankara andc_{Department of Orthopaedics, Osmangazi}

University, Eskisehir, Turkey

Correspondence to Dr Alper Kaya, MD, Ufuk University, Dr Ridvan Ege Hospital, Mevlana Bulvari, 86-88, Balgat-Ankara, Turkey

Tel: + 90 312 2044177; fax: + 90 312 2044000; e-mail: alperkaya@yahoo.com

Introduction

The frequency of congenital limb deformities is not known, and most cases occur sporadically. Multiple deformities are frequently seen in the same child. Some of these can be related to genetic syndromes. Terminal transverse deficiencies result from arrest of formation in the limb anlage, with amputations taking place at any level along the limb axis. Limb deficiency may occur in offspring prenatally exposed to alcohol and smoking [1,2].

We present a case who had teratologic high hip dislocation associated with congenital femur deficiency and congenital below-knee amputation in the same limb, and fibular hemimelia in the contralateral limb. To our knowledge, such a case has not yet been published in the literature.

Case report

A 6-year-old girl was admitted to our hospital because of her congenital lower limb deformities. Maternal and birth histories were normal. She was the first child of her mother and the fourth child of her father. Any predis-posing or etiological factor could not be determined. In physical examination there was congenital below-knee amputation at the right limb, adduction contracture at the right hip, shortening of the right thigh, anteromedial tibial bowing at the left cruris and fifth ray was absent. At the right limb the amputation stump had 301-flexion contracture. The left foot was at equinovalgus position and not centralized below the ankle joint.

In radiological examination there was terminal transverse limb deficiency below the knee level (Fig. 1). It was unclassified because the stump had some irregular fibro-osseous tissue and a bone block that might be calcaneus or a part of the tibia as an intercalary deficiency. Therefore, the deformity was defined as congenital below-knee hemimelia. She had teratologic high hip dislocation at the right site with type VIII femoral deficiency according to the Pappas [3] classification and fibular hemimelia, absence of fifth ray, at the left site (Figs 2 and 3). Fibular hemimelia was classified as IIVc4 [hypoplastic fibula (II), valgus ankle (V), tarsal coalition (c) and four ray (4)] according to the Stanitski classification [4].

The right hip was operated on first. The procedure consisted of an open reduction, proximal femoral osteotomy (4 cm femoral shortening, 201 varisation and 301 derotation) and a Dega acetabuloplasty (Fig. 4). A postoperative bilateral hip spica cast was applied for 2 months.

Two months later, tibial closed wedge osteotomy and centralization of the foot with lateral release and Achilles tendon lengthening were performed for the contralateral site. The remnant fibula was not excised. An abduction splint was used for the right hip for an additional 2 months. At the end of the fourth postoperative month, healing processes in all osteotomy sites were considered complete (Fig. 5a). All splints were discontinued and the Kirschner wires removed from the left tibia. A modified modular knee disarticulation prosthesis with lateral joint was produced. The child was ambulated with this prosthesis

1060-152X c 2008 Wolters Kluwer Health | Lippincott Williams & Wilkins

successfully. She was able to walk with two crutches at the end of 4.5 months after the treatment was started (Fig. 5b).

Discussion

The presented case had complex congenital lower limb deformities, and the etiology was probably sporadic. Teratologic hip dislocations are generally believed to be difficult cases, and the rate of postoperative complica-tions is higher than that of developmental cases. The difficulty in treatment increases as the child becomes older. The aim of treatment of hip dislocation is to achieve a stable and concentrically located joint and

satisfactory development of the hip. In the older age group of patients with highly dislocated hips, there are several complications including avascular necrosis of the femoral head, redislocation, sciatic lesion, vascular injury, graft migration, inadequate shortening and neck-shaft angle correction of the femur [5]. No short-term complication was seen in the presented case following one-stage combined surgical treatment. In the presented case, besides high dislocation there was femoral hypopla-sia, but this did not lead to any difficulty in the treatment of hip dislocation. According to the Pappas [3] classifica-tion, femoral hypoplasia and coxa valga is type VIII femoral deficiency. In this type, additional ipsilateral and contralateral malformations are frequent. In addition, some congenital anomalies involving other systems such as face, gastrointestinal system, urogenital system, heart, lung and diaphragma have also been described in the literature [6,7]. Any other system anomalies were not found in the presented case.

The goal of treatment for congenital lower extremity amputations is to obtain an adequate extremity to wear a functional prosthesis for walking. Sometimes additional

Fig. 1

Radiographic appearance of congenital below-knee amputation.

Fig. 2

High dislocation on the right hip.

Fig. 3

Fibular hemimelia with hypoplastic fibula, four ray, valgus ankle and tarsal coalition on the left cruris. (a) Anterior–posterior and (b) lateral radiography.

78 Journal of Pediatric Orthopaedics B 2008, Vol 17 No 2

amputation surgeries are needed for this function. In our case, the stump had approximately 301-flexion contrac-ture, but we did not amputate the stump for additional knee motion. Isolated transverse deficiencies are simpler for treatment if the amputation level is adequate for prosthetic design. In our case, there was more than one anomaly in both lower extremities that make the treatment difficult.

Fibular hemimelia is the most common long bone congenital absence or hypoplasia [8]. In the most severe form, the fibula is absent, the distal third of the tibia is bowed anteriorly and the foot is in equinovalgus with absence of one or more lateral rays [9]. Valgus ankle orientation was caused by a persistence of triangular distal tibial epiphysis morphology and correlated strongly with the presence of a tarsal coalition and diminution

of fibular presence [4]. Choi et al. [10] hypothesized that the wedge shape of the distal tibial epiphysis is a consequence of compression from lateral tethering from soft tissues, the fibrous fibular anlage and the Achilles tendon. Caske and Lester [9] identified clubfoot deformity in 16% of their population of patients with fibular hemimelia. In our case, there was equinovalgus deformity, and lateral structures and the Achilles tendon were contracted. The prevalence of tarsal coalition in fibular hemimelia is not known but is frequent. Grogan et al. [11] reported 13 of 17 patients with fibular hemimelia had documented tarsal coalition by anatomic dissection after Syme amputation. Children with missing lateral rays were more likely to have a coalition than those with a normal foot. Our case had talocalcaneal coalition and absence of lateral ray. Achterman and Kalamchi [12] reported a ball and socket ankle joint in 38 of 46 involved limbs. The association of coalitions with the ball and socket ankle was not addressed. Pappas and Miller [13] described 51 patients with 55 shortened limbs and ball and socket ankle joints. Takakura et al. [14] described seven patients with 10 ball and socket ankle joints. All cases had limb shortening and all except one had a tarsal coalition. Lengthening of the tibia was not needed in our case because of the absence of contralateral cruris. It was a facilitative factor for the procedure.

In this case with multiple congenital deformities, two-stage surgical treatment was successful with good functional result. In conclusion, children with congenital limb deficiencies must be evaluated with careful attention;

Fig. 4

Anterio-posterior radiography of pelvis and lower extremity after healing of both sides.

Fig. 5

Clinical photograph of the case, (a) standing without support and (b) walking with two crutches.

Ipsilateral teratologic high hip dislocationKaya et al. 79

most of them can be treated with great success following adequate preoperative planning.

Acknowledgements

The authors would like to thank Teoman Benli, MD, for his kind contribution to the study and Evren Erdem, MD, for his great attention and successful work on the prosthesis of this case.

References

1 Froster UG, Baird PA. Congenital defects of the limbs and alcohol exposure in pregnancy: data from a population based study. Am J Med Genet 1992; 44:782–785.

2 Czeizel AE, Kodaj I, Lenz W. Smoking during pregnancy and congenital limb deficiency. BMJ 1994; 308:1473–1476.

3 Pappas AM. Congenital abnormalities of the femur and related lower extremity malformations: classification and treatment. J Pediatr Orthop 1983; 3:45–60.

4 Stanitski DF, Stanitski CF. Fibular hemimelia: a new classification system. J Pediatr Orthop 2003; 23:30–34.

5 Vallamshetla VRP, Mughal E, O’Hara JN. Congenital dislocation of the hip. A re-appraisal of the upper age limit for treatment. J Bone Joint Surg [Br] 2006; 88:1076–1081.

6 Verma A, Jain N, Jain K. Additional malformations in femoral hypoplasia: unusual facies syndrome. Indian J Pediatr 2002; 69:531–532.

7 Ergin H, Semerci SN, Bican M, Du¨zcan F, Yagci AB, Erdogan KM, Tufan AC. A case with proximal focal femoral deficiency (PFFD) and fibular a/hypoplasia (FA/H) associated with urogenital anomalies. Turk J Pediatr 2006; 48:380–382.

8 Coventry MB, Johnson EW. Congenital absence of fibula. J Bone Joint Surg [Am] 1952; 34:941–955.

9 Caske PM, Lester EL. Association of fibular hemimelia and clubfoot. J Pediatr Orthop 2002; 22:522–525.

10 Choi IH, Lipton GE, Mackenzie W, Bowen JR, Kumar SJ. Wedge-shaped distal tibial epiphysis in the pathogenesis of equinovalgus deformity of the foot and ankle in tibial lengthening for fibular hemimelia. J Pediatr Orthop 2000; 20:428–436.

11 Grogan DP, Holt GR, Ogden JA. Talocalcaneal coalition in patients who have fibular hemimelia or proximal femoral focal deficiency. A comparison of the radiographic and pathologic findings. J Bone Joint Surg [Am] 1994; 76:1363–1370.

12 Achterman C, Kalamchi A. Congenital deficiency of the fibula. J Bone Joint Surg [Br] 1979; 61:133–137.

13 Pappas AM, Miller JT. Congenital ball-and-socket ankle joints and related lower-extremity malformations. J Bone Joint Surg [Am] 1982; 64:672–679.

14 Takakura Y, Tamai S, Masuhara K. Genesis of the ball-and-socket ankle. J Bone Joint Surg [Br] 1986; 68:834–837.

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