Fibular hemimelia with limb appendage
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《美国医学杂志》
1 Department of Pediatrics,Institute of Medical Sciences, Banaras Hindu University, Varanasi- 221 005, India
2 Division of Neonatology,Institute of Medical Sciences, Banaras Hindu University, Varanasi- 221 005, India
Absence of fibula (fibular hemimelia) is an uncommon condition. The presentation may vary from hypoplasia to complete absence of the fibula. We report a case of left-sided fibular hemimelia with ipsilateral shortening of femur and antero-medial bowing of the tibia. The defect was associated with a limb appendage arising from the ankle joint, a finding not reported earlier.
A full-term female baby was delivered vaginally to a 28-year-old second gravida mother at hospital without any perinatal complications. There was no history of consanguineous marriage or exposure to known teratogens like drugs, industrial chemicals, or radiation. First pregnancy ended with a spontaneous abortion at 2 months of gestation, 2 years back. There was no family history of any congenital malformations. The baby's weight, crown-heel-length and head circumference were 2620g, 46 cm and 31.8 cm, respectively. Examination revealed shortening of left lower limb, anteromedial bowing of tibia, calcaneovalgus deformity of the left foot and shortening of ipsilateral femur by 2 cm. An appendage was found arising from the anterior aspect of the left ankle joint, measuring 6.5 cm in length and 2.8 cm in diameter Figure1. It was firm in consistency. There was no other congenital malformation, facial dysmorphism or any evidence of developmental dysplasia of hip. X-ray of the left lower limb showed absence of fibula and bowing of tibia. The appendage contained four separate bony structures within its mass Figure2, with no evidence of bony fusion of appendage and the ankle joint. Hemivertebra was also noted at D6 level. Skeletal survey of other bones, chest X-ray and ultrasonography of abdomen were normal. Orthopedic consultation was taken but the baby was lost to follow-up.
Partial deficiencies of the lower extremity, like tibial and fibular hemimelias, are defined as congenital absence of a longitudinal element, either pre-axial or post-axial, in a segment of the lower extremity. Fibula is found to be the most frequently deficient long bone.[1] The 4th to 7th gestational week has been identified to be most prone to these defects.[2]
Three types of fibular hemimelia are described in literature.[3] In type I lesion, the mildest type, only one limb is affected with partial absence of the fibula, with no bowed tibia and no foot deformity. Functional impairment is very little and bony defect is visible only on radiological examination. In type II lesion, the limb is moderately affected. The lesion is unilateral or sometimes bilateral, with complete or almost complete absence of the fibula. Equinovalgus deformity of the foot and antero-medial bowing of the tibia may be associated. The lateral one or two rays of the foot may be absent and the other bones of the foot are hypoplastic. There may be tarsal coalition with development of a ball-and-socket ankle. There is moderate to marked limb shortening. The severest, type III lesion, has a bilateral defect and is associated with proximal femoral deficiency or with reduction deformities in the upper extremities and with hemi-vertebrae. Our patient appeared to have a type II lesion.
The degree of deformity of the foot or knee and the amount of shortening do not necessarily correspond with the extent of the fibular dysplasia. Although, in most cases the foot is in equinovalgus position, there may be calcaneo-valgus (as in this case) or pure equinus in some cases.
Management (like lengthening, epiphyseodesis or amputation) should be based on a careful analysis of functional, psychological and cosmetic needs of the patients. The prognosis for height, growth and development of all segments of the limb is based on serial examination and intervention begun early in life[4]. Early surgical treatment and prosthetic rehabilitation yield excellent results, not only for the short term but also for the long term[5].
References
1. Achterman C, Kalamchi A. Congenital absence of the fibula. J Bone Joint Surg (Br) 1979; 61 (B): 133-137.
2. Amstutz HC. Natural history and treatment of congenital absence of the fibula. J Bone Joint Surg (Am) 1972; 54 (A): 1349.
3. Coventry MB, Johnson EW. Congenital absence of the fibula. J Bone Joint Surg (Am) 1952; 34 (A): 941-955.
4. Sharrard WJW. Major Congenital Malformations of the Limbs. In Pediatric Orthopedics and Fractures. 3rd edn. Oxford; Blackwell Scientific Publications, 1993; 1 : 234-242.
5. Bohne WHO, Root L. Hypoplasia of the fibula. Clin Orthop 1977; 125: 107-112.(Kumar Ashok, Ghosh Jayant)
2 Division of Neonatology,Institute of Medical Sciences, Banaras Hindu University, Varanasi- 221 005, India
Absence of fibula (fibular hemimelia) is an uncommon condition. The presentation may vary from hypoplasia to complete absence of the fibula. We report a case of left-sided fibular hemimelia with ipsilateral shortening of femur and antero-medial bowing of the tibia. The defect was associated with a limb appendage arising from the ankle joint, a finding not reported earlier.
A full-term female baby was delivered vaginally to a 28-year-old second gravida mother at hospital without any perinatal complications. There was no history of consanguineous marriage or exposure to known teratogens like drugs, industrial chemicals, or radiation. First pregnancy ended with a spontaneous abortion at 2 months of gestation, 2 years back. There was no family history of any congenital malformations. The baby's weight, crown-heel-length and head circumference were 2620g, 46 cm and 31.8 cm, respectively. Examination revealed shortening of left lower limb, anteromedial bowing of tibia, calcaneovalgus deformity of the left foot and shortening of ipsilateral femur by 2 cm. An appendage was found arising from the anterior aspect of the left ankle joint, measuring 6.5 cm in length and 2.8 cm in diameter Figure1. It was firm in consistency. There was no other congenital malformation, facial dysmorphism or any evidence of developmental dysplasia of hip. X-ray of the left lower limb showed absence of fibula and bowing of tibia. The appendage contained four separate bony structures within its mass Figure2, with no evidence of bony fusion of appendage and the ankle joint. Hemivertebra was also noted at D6 level. Skeletal survey of other bones, chest X-ray and ultrasonography of abdomen were normal. Orthopedic consultation was taken but the baby was lost to follow-up.
Partial deficiencies of the lower extremity, like tibial and fibular hemimelias, are defined as congenital absence of a longitudinal element, either pre-axial or post-axial, in a segment of the lower extremity. Fibula is found to be the most frequently deficient long bone.[1] The 4th to 7th gestational week has been identified to be most prone to these defects.[2]
Three types of fibular hemimelia are described in literature.[3] In type I lesion, the mildest type, only one limb is affected with partial absence of the fibula, with no bowed tibia and no foot deformity. Functional impairment is very little and bony defect is visible only on radiological examination. In type II lesion, the limb is moderately affected. The lesion is unilateral or sometimes bilateral, with complete or almost complete absence of the fibula. Equinovalgus deformity of the foot and antero-medial bowing of the tibia may be associated. The lateral one or two rays of the foot may be absent and the other bones of the foot are hypoplastic. There may be tarsal coalition with development of a ball-and-socket ankle. There is moderate to marked limb shortening. The severest, type III lesion, has a bilateral defect and is associated with proximal femoral deficiency or with reduction deformities in the upper extremities and with hemi-vertebrae. Our patient appeared to have a type II lesion.
The degree of deformity of the foot or knee and the amount of shortening do not necessarily correspond with the extent of the fibular dysplasia. Although, in most cases the foot is in equinovalgus position, there may be calcaneo-valgus (as in this case) or pure equinus in some cases.
Management (like lengthening, epiphyseodesis or amputation) should be based on a careful analysis of functional, psychological and cosmetic needs of the patients. The prognosis for height, growth and development of all segments of the limb is based on serial examination and intervention begun early in life[4]. Early surgical treatment and prosthetic rehabilitation yield excellent results, not only for the short term but also for the long term[5].
References
1. Achterman C, Kalamchi A. Congenital absence of the fibula. J Bone Joint Surg (Br) 1979; 61 (B): 133-137.
2. Amstutz HC. Natural history and treatment of congenital absence of the fibula. J Bone Joint Surg (Am) 1972; 54 (A): 1349.
3. Coventry MB, Johnson EW. Congenital absence of the fibula. J Bone Joint Surg (Am) 1952; 34 (A): 941-955.
4. Sharrard WJW. Major Congenital Malformations of the Limbs. In Pediatric Orthopedics and Fractures. 3rd edn. Oxford; Blackwell Scientific Publications, 1993; 1 : 234-242.
5. Bohne WHO, Root L. Hypoplasia of the fibula. Clin Orthop 1977; 125: 107-112.(Kumar Ashok, Ghosh Jayant)