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Figure 1: Preoperative AP full limb radiograph showing the 11° valgus alignment of the right distal femur. Bilateral hip dysplasia and subluxation (broken Shenton lines) are evident.
Fraser syndrome is a familial syndrome that is transmitted as an autosomal recessive trait. It was first described in 1962 in two families.1 The main feature of Fraser syndrome is cryptophthalmos with associated orofacial, renal, laryngeal, digital, and urogenital anomalies. Patients usually present with variable malformations of the middle and outer ear that may result in hearing impairment. Most patients with Fraser syndrome also have mental retardation.
The incidence of Fraser syndrome is estimated to be 4.3 for 1 million live-born infants and 11 for 100,000 stillbirths. Approximately 25% of cases are stillborn and another 25% die within the first year of life from renal agenesis and laryngeal stenosis.2-4 However, patients can live into the fourth decade of life. No diagnostic cytogenetic abnormality has been documented in affected patients, and no molecular genetic studies have been reported.
Musculoskeletal-related abnormalities include partial hand and foot syndactyly and diastasis of the pubic symphysis.3,5 This article describes hip dysplasia and genu valgum in a patient with Fraser syndrome.
A 7-year-old girl presented with a history of cryptophthalmos, auditory anomalies, and end-stage renal disease secondary to a single dysplastic kidney. A previous genetic evaluation resulted in a diagnosis of Fraser syndrome. The patients surgical history included syndactyly releases for her hands and feet, and a gastrostomy. She underwent renal transplantation at age 7 for renal hypoplasia and was on immunosuppressive medications.
The patient attended school and communicated by reading lips and using sign language. She was referred to our clinic for genu valgum deformity. Despite being an independent ambulator, the mother was concerned because the patient complained of bilateral hip and right knee pain.
On physical examination, the patient demonstrated a broad-based gait, which is expected in patients with wide pubic symphysis. She had full range of motion in all of the major joints in her upper extremities. There was no evidence of scoliosis.
She had full range of motion of both hips without appreciable instability. Genu valgum malalignment was noted on the right side and normal alignment was noted on the left side. There was an obligatory subluxation of the patella when she flexed her right knee without crepitus or pain. There was no joint effusion. Her feet were plantigrade and supple.
Radiographs revealed genu valgum on the right with the lateral distal femoral angle measuring 70°. Both proximal tibiae and the left femur were normal (Figure 1).
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Figure 2: Postoperative AP (A) and frog lateral (B) pelvis radiographs showing acetabular coverage.
Pelvic radiographs demonstrated bilateral hip dysplasia with associated subluxation. The right hip showed more dysplasia than the left hip. Acetabular indices were 40° bilaterally, and the Shenton lines were disturbed (Figure 1). An additional anteroposterior radiograph of the pelvis obtained with the hips abducted and internally rotated demonstrated the hip could be reduced with the femoral head against the medial wall of the acetabulum and the Shenton line reestablished.
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Figure 3: Postoperative AP full limb radiograph showing improved mechanical alignment of the right lower extremity. The left distal femur is in 7° of valgus.
Bilateral femoral and pelvic osteotomies and a right distal femur medial staple epiphysiodesis were scheduled to stabilize the hip and allow growth to correct the genu valgum. However, the family decided to wait and allow time for the patient to recuperate from her renal transplant. Therefore, only the right hip and knee deformities were addressed surgically, with future surgical correction planned for the left side.
At her 6-month follow-up examination, the patient had a painless right hip with full motion. However, she still reported left hip pain (Figure 2). Lower extremity alignment was improved with no apparent change in version (Figure 3).
Fraser syndrome comprises a wide array of abnormalities. It is divided into major and minor criteria. Two major criteria and one minor or one major and four minor are required to make the diagnosis of the syndrome.3,6
Approximately 50% of children with Fraser syndrome die before the age of 1, including stillbirths. There is a wide variety of associated genitourinary anomalies, which complicates the treatment of survivors.3
Myriad orthopedic manifestations have been described in children with Fraser syndrome3 (Table). However, hip dysplasia or genu valgum has not been described previously in the literature. Patients with pubic diastasis secondary to bladder exstrophy may present with hip problems.7 The natural history is that of increasing pain and difficulty with ambulation.8
The best results in patients with pubic diastasis were found in those who underwent surgical realignment. In bilateral cases, if surgery is planned, we recommend performing surgical correction on one hip at a time to avoid excessive bleeding and reduce the risk for blood transfusion.
In our patient, the goal of the pelvic procedure was to achieve concentric hip reduction for better ambulation and relief of symptoms in her hip. Surgical planning included assessing version and the neck-shaft angle. We achieved a neck-shaft angle of 120° as further correction of the genu valgum may create further varus at the proximal femur of approximately 110°. We did not correct the version of the acetabulum because patients with pubic diastasis tend to compensate with femoral anteversion. No femoral derotation was attempted.
When evaluating limb alignment, there are several factors to consider. Tibia bowing or genu varum has been reported,3 but we could not find a report on genu valgum. In our patient, the lateral femoral angle measured 11° of valgus. She did not present with any lower or upper joint contractures and her feet were normal. Proper limb alignment and stability may restore normal joint mechanics and reduce the incidence of adult-onset degenerative joint disease.
Primary caregivers need to be aware of these two orthopedic findings in Fraser syndrome to identify and refer patients appropriately. Serial monitoring of patients with Fraser syndrome may prevent functional problems, as many of these children with adequate renal care become functional ambulators and long-term survivors.
- Fraser GR. Our genetic load: a review of some aspects of genetical variation. Ann Human Genet. 1962; 25(4):387-415.
- Ford GR, Irving RM, Jones NS, Bailey CM. ENT manifestations of Fraser syndrome. J Laryngol Otol. 1992; 106(1):1-4.
- Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002; 39(9):623-633.
- Boyd PA, Keeling JW, Lindenbaum RH. Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. Am J Med Genet. 1988; 31(1):159-168.
- Gattuso J, Patton MA, Baraitser M. The clinical spectrum of the Fraser syndrome: report of three new cases and review. J Med Genet. 1987; 24(9):549-555.
- Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC. Isolated and syndromic cryptophthalmos. Am J Med Genet. 1986; 25(1):85-98.
- Kaar SG, Cooperman DR, Blakemore LC, et al. Association of bladder exstrophy with congenital pathology of the hip and lumbosacral spine: a long-term follow-up study of 13 patients. J Pediatr Orthop. 2002; 22(1):62-66.
- Sutherland D, Pike L, Kaufman K, Mowery C, Kaplan G, Romanus B. Hip function and gait in patients treated for bladder exstrophy. J Pediatr Orthop. 1994; 14(6):709-714.
Drs Herrera-Soto and Price are from the Orlando Regional Healthcare System Orlando, Florida.
Drs Herrera-Soto and Price have no relevant financial relationships to disclose.
Correspondence should be addressed to: José A. Herrera-Soto, MD, 82 W Copeland St, Orlando, FL 32806.