Developmental dysplasia of the hip associated with

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Case report 537

Developmental dysplasia of the hip associated with aplasia of the pubic bone (hook-pelvis): report of a case and review of the literature Salih Soylemeza, Abdullah Erenb, Afsar Ozkuta, Esat Uygura and Samet Erinca Aplasia of the pubic bone associated with congenital hip dislocation is rare. Various dysmorphic conditions featuring absence or hypoplasia of the ischiopubic bone, associated with congenital hip dislocation, have been distinguished in the literature. We report the case of an 18-month-old boy with developmental dysplasia of the hip associated with isolated total aplasia of the pubic bone. Patient was successfully treated with modified Salter osteotomy and reverse U-shaped capsuloplasty. J Pediatr Orthop B 23:537–540 © 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Introduction Developmental dysplasia of the hip (DDH) is caused by inappropriate development of the acetabulum. Normally, the triradiate cartilage and three ossification centers in the acetabular portion of the pubis (the os acetabulum), ilium (the acetabular epiphysis), and ischium function in concert to grow the acetabulum [1]. The anterior portion of the acetabulum is formed by the superior rami of the pubic bone. DDH associated with aplasia of this bone is rare [2,3]. Intrauterine development of the pelvic girdle is regulated by expression of certain genes that also function to control the development of other tissues. Any irregularity in gene expression may trigger dysmorphic changes [4] associated with syndromes including campomelic dysplasia [5], genitopatellar syndrome [6,7], and small patella syndrome [8,9]. It seems logical to suggest that DDH may be triggered by aplasia of the pubic bone. However, total aplasia of the pubic bone in the absence of any associated clinical pathology is both rare and (intuitively) strange. Herein, we review the literature and present a case of an 18-month-old boy with DDH associated with total pubic bone aplasia. We performed open reduction, capsuloplasty, and modified Salter osteotomy by an anterolateral approach.

Case An 18-month-old boy was admitted to our Pediatric Orthopedic Clinic because he limped and his legs were widely spaced. He had been delivered through Cesarean section and was of normal birth weight. He had commenced walking at 14 months after birth. There was no 1060-152X © 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins

Journal of Pediatric Orthopaedics B 2014, 23:537–540 Keywords: developmental dysplasia of the hip, hook-pelvis, pubic aplasia a Department of Orthopaedics and Traumatology, Göztepe Training and Research Hospital, Istanbul Medeniyet University and bDepartment of Orthopaedics and Traumatology, Medical Faculty, İstanbul Bilim University, Istanbul, Turkey

Correspondence to Esat Uygur, MD, Department of Orthopedics and Traumatology, Göztepe Training and Research Hospital, Egitim Street, 34732 Kadikoy, Istanbul, Turkey Tel: + 90 216 570 9105; fax: + 90 216 411 9393; e-mail: [email protected]

family history of DDH or any musculoskeletal pathology. His parents were consanguineous. Two weeks before, his parents had noticed limping. Physical examination revealed that the skin folds of the right leg were particularly tight, the right leg was shortened, the gait was Trendelenburg in nature, the right leg abduction was limited, and the right leg exhibited a positive Galeazzi sign. The joints of the left leg were normal and no limitation in the range of motion (ROM) was evident. Anterior–posterior plain radiographs revealed DDH of Tonnis type 4 and total aplasia of the right pubic bone (Fig. 1a). The right acetabular index was 37° and the left index was 19°. MRI revealed total aplasia of the right pubic bone, which was replaced by a rudimentary cartilagenous structure, to which adductor muscles were attached in the normal positions. The intrapelvic structures were normally located (Fig. 2a and b). Kidney function test data and abdominal–pelvic ultrasound findings were normal. A complete radiographic skeletal survey was performed and no other pathology was noted. Operation was decided for the hip dysplasia and performed by the senior author (A.E.). Open reduction and capsuloplasty were performed by an anterolateral approach. The acetabulum was examined intraoperatively. A rudimentary cartilagenous structure was noted in the place of pubic bone, and the anterior acetabular rim was not defective. Femoral head was normal in shape and no soft tissue attachments were determined. A modified Salter osteotomy was performed to increase the coverage of the acetabulum (Fig. 1b). A spica cast was applied for 3 months to prevent loss of reduction. After removing the cast, an abduction splint was used for 3 months (24 h a day) and continued for a further DOI: 10.1097/BPB.0000000000000092

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538 Journal of Pediatric Orthopaedics B 2014, Vol 23 No 6

Fig. 1

(a) Preoperative radiograph showing developmental dysplasia of the hip of Tonnis type 4 and total aplasia of the right pubic bone. (b) An early postoperative radiograph showing the outcome of modified Salter osteotomy.

Fig. 2

(a) T1 MRI showing normally attached adductor muscles, despite total aplasia of the pubic bone (arrows). (b) T2 MRI demonstrating total aplasia of the right pubic bone (arrows).

3 months (nights only). At the final follow-up (2 years postoperatively), the right hip was in place and the right acetabular index was 25° (Fig. 3a and b). The Trendelenburg gait had disappeared and the ROM was normal.

Discussion Several dysmorphic entities associated with the absence or hypoplasia of the ischiopubic bone and congenital hip dislocation have been distinguished in the literature. These include campomelic dysplasia [5], genitopatellar syndrome [6,7], and small patella syndrome [8,9].

Campomelic dysplasia is usually lethal, being associated with defective ischiopubic ossification, congenital subluxation or dislocation of the hips, hypoplastic lesser trochanters, elongated femoral necks, kyphoscoliosis, short stature, talipes, dislocation of radial heads, characteristic facial features, and developmental delay [5]. Small patella syndrome affects the lower limbs and pelvis. Absence of the ischiopubic junction is characteristic of this syndrome [8]. Sferopoulos and Tsitouridis [2] described two patients with hypoplasia of the ischiopubic region who also presented with spinal dysraphism, scoliosis, bilateral aplasia of the patella, and congenital dislocation of the hip. Genitopatellar syndrome is associated

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Hook pelvis Soylemez et al. 539

Fig. 3

Postoperative second year: (a) anterior–posterior and (b) abduction radiographs showing the hip in place and adequate coverage of the acetabulum.

with arthrogryposis of the hips and knees, scrotal hypoplasia, renal anomalies, a typical facial appearance, and mental retardation [6]. Splayed pubic bones associated with ischial hypoplasia have been reported in one patient [7]. Only two reports of absence or hypoplasia of the ischiopubic bone associated with congenital hip dislocation have been reported; the condition is not a recognized syndrome. Mégarbané and Ghanem [10] reported a case with agenesis of the iliopubic rami associated with pubic dehiscence, hip dislocation, bilateral coxa vara, short femora, and femorotibial synchondrosis and termed this condition of pelvis as ‘hook-pelvis’. Sarban et al. [3] described a case with unilateral hip dislocation in conjunction with ipsilateral absence of the pubic bone, an undescended palpable testicle, and hypospadias. However, isolated total aplasia of the pubic bone associated with DDH has never been reported in the orthopedic literature. Ghanem and Mégarbané [11] have claimed that this condition can be a new genetic disorder, because the parents of reported two cases were consanguineous and they were from the Middle East, one from Turkey and the other from Lebanon. Parents of our case were third-degree relatives and they were from Turkey too. Therefore, a detailed family history was examined to identify a possible genetic origin for this malformation. However, no obvious hereditary disease could be traced, and there was no relationship between the three cases. Sarban et al. [3] have claimed that congenital hip dislocation associated with total aplasia of the pubic bone is kind of a teratogenic hip dislocation. However, in our case, intraoperative examination revealed no evidence for teratogenic hip dislocation. However, no recognized treatment for congenital hip dislocation associated with aplasia of the pubic bone has been described. Sarban et al. [3] performed open reduction and capsuloplasty by an anterolateral incision in a similar patient. However, subluxation and avascular necrosis developed 12 months

postoperatively. We believe that, in our case, anterior acetabular defect, caused by pubic aplasia, was not the principal problem, which was rather the regular DDH. Open reduction and capsuloplasty is insufficient to keep the hip in place or to stimulate normal acetabular growth in an 18-month-old patient. The surgeon must aim to correct the acetabular coverage if the hip is to be held in place. Therefore, we performed a modified Salter osteotomy and reverse U-shaped capsuloplasty as previously described by Eren et al. [12]. Two years later, the acetabular index was adequate to hold the hip in place and the ROM was full. A secondary ossification center was evident in the femoral head. Development was normal and no avascular necrosis was evident. Our patient remains well and functional. We have summarized previously reported cases and syndromes featuring ischiopubic absence or hypoplasia associated with congenital hip dislocation. To the best of our knowledge, isolated total aplasia of the pubic bone associated with DDH has never before been reported, at least in the English literature. Total aplasia of the pubic bone was not the cause of hip dislocation. We treated our patient with modified Salter osteotomy and reverse U-shaped capsuloplasty. We believe that this method allows the inadequate coverage of the acetabulum to be appropriately addressed.

Acknowledgements Conflicts of interest

There are no conflicts of interest.

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