2001-01-19-16 Congenital absence of fibula © Parada www.thefetus.net/
Congenital absence of fibula
Sara Parada, MD
Clinica Imagenologica Dres. Parada, Montevideo, Uruguay
Definition: Unilateral or bilateral short lower extremity due to a congenital absence of fibula, commonly associated with anterior bowing of the lower leg, with skin dimpling and anomalies of the foot.
Synonyms: Femur-fibula-ulna syndrome, intercalary hemimelia of the fibula, Fibula, congenital deficiency of proximal femoral focal deficiency, congenital short tibia with absent or dysplastic fibula
Prevalence: M2: F1
Occurrence: The fibula probably is the most frequently hypoplastic or absent long bone. Several hundred cases have been recorded.
Etiology: Usually sporadic, although a familial incidence (autosomal recessive),,, has been reported in a small percentage of cases. Teratogens and mechanical factors have not been ruled out.
Recurrence Risk. For the patient’s siblings probably negligible, unless autosomal recessive; for patient’s child: unknown.
Pathogenesis: Embryologic studies indicate a development insult to the embryo at about the fifth or sixth week of intrauterine life. Similar anomalies have been successfully produced in experimental animals by various chemical substances, such as busulfan, if administrated during a specific period of intrauterine development. Tibial bowing and foot deformities are probably the result of abnormal attachments of the fibular muscles, resulting in abnormal stresses on the developing tibia and the foot, respectively.
Fibula abnormalities vary from a partial absence, with relatively normal-appearing limbs, to absent fibula, with marked shortening of the femur, curved tibia and serious foot anomalies.
Generally three types have been recognized.
- TYPE I includes cases with unilateral or partial absence of the fibula, with mild or no bowing of the tibia (10 % of the cases). The leg may or may not be shortened.
- TYPE II patients have unilateral absence of the fibula, anterior bowing of the tibia with dimpling foot deformity with absent rays, and marked shortening of the leg. This form is observed in about 35 % of the cases.
- TYPE III (the remaining 55 % of the patients) have unilateral or bilateral absence of the fibula, with the same leg and foot deformities above described and multiple other skeletal defects. Short femur of varying degrees appears to be a frequent finding in type II and III patients, as are talipes equinovarus or equinovalgus deformities and a tight band extending from the calcaneous to the upper portions of the tibia.
Diagnosis: The diagnosis is made by the absence of the fibula with commonly associated clubfoot,. The degree of fibular deficiency ranges from unilaterally short to bilaterally absent. Other findings (see associated anomalies below) can also be diagnosed.
This fetus has a small amount of bowing and shortening of the right leg (compare to the left leg on the second image):
Note the striking cross-section of both lower legs with absence of the fibula on the right leg (left on the images):
and a longitudinal view of both lower legs:
And the resulting club foot and foot hypoplasia. Note on the last image the lack of 5 toes.
And the baby after delivery
The following are video clips of the various findings. Each clip is provided either as a MPEG (faster download, but if you cannot play MPEG, use the other
Associated anomalies: The most common associated anomaly is proximal femoral deficiency syndrome,.
Other anomalies includes cardiac anomalies, thrombocytopenia absent-radius (TAR) syndrome, thoracoabdominal schisis, spina bifida and renal anomalies, but most associated anomalies are skeletal and includes,,,,,:
- Peromelia (severe anomalies of distal limbs including absence of hand or foot),
- congenital dislocation of the head of the radius,
- syndactyly, brachydactyly and clinodactyly of fingers and toes,
- facial dysmorphism,
- congenital shortening of the femur,
- distal femoral valgus with condylar hypoplasia,
- external rotation deformity.
Differential diagnosis: Amniotic band syndrome, campomelic dysplasia, fetal thalidomide syndrome, mesomelic dysplasia, skeletal dysplasia, ulna and fibula hypoplasia.
Prognosis: Rehabilitation varies depending on the severity of the limb deficiency. Prognosis is good with regard to mental development and life span.
Management: Standard obstetrical management is not altered. Fibular deficiency is usually benign, but leg length inequality may be corrected by epiphysiodesis, leg lengthening, ankle reconstruction using the Gruca technique or simply a shoe raise. Rarely when the foot is nonfunctional, amputation may be considered,,,17.
Congenital absence of fibula. in Birth Defects Encyclopedia. Mary Louise Buyse (Ed.) Blackwell Publication date…)
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