Our patient was a 5-month-old female orphan who was left at a clinic in Port-au-Prince, Haiti. Information about her birth or prenatal history was limited apart from the knowledge that her mother had taken misoprostol early in pregnancy with the intent to induce abortion.Body weight was 5.8 kg (third centile), height was 19.5 cm (third centile), and the head circumference was 17.4 cm (third centile). The child was well in appearance and showed no facial dysmorphism. Examination indicated significant shortening of both thighs, flexion contractures of 451 at both knees, and severe equinovalgus deformity of both feet. Oligodactyly was also observed in both feet, showing four digits including the great toe on the right and three digits including the great toe on the left. The upper limbs were bilaterally symmetrical and normal in appearance; however, examination of the right hand showed two functional digits, an apparent thumb and a second digit, whereas the left hand had five digits with incomplete webbing at the ring-little interspace. On chest examination, there was no cardiac murmur and breath sounds were normal. Abdominal examination was normal, and normal female genitalia were observed. Ophthalmologic examination was normal, and neither facial palsy nor cranial nerve involvement was noted.
InvestigationsRadiograph of the lower limbs showed bilateral absence of the proximal femur, with no hip development on either side. Fibular hypoplasia was also evident in both lower extremities, with complete absence of the left fibula and the proximal two-thirds of the right fibula missing (Fig. 1). An additional bony prominence was observed between the right distal femur and the proximal tibia, and the right and left feet had four and three distinct metatarsals and phalanges, respectively. Radiology of the upper limbs showed a deformity in both hands. In the right hand, an accessory proximal phalanx at the base of the thumb was observed whereas the middle phalanx of the index finger was absent. The remaining third, fourth, and fifth digits were also absent. The left hand showed conjoined fourth and fifth metacarpal shafts with bifid deformity distally, resulting in separate fourth and fifth metacarpal heads. There was no apparent abnormality of the phalanges. Radiology of the spine showed normal alignment, although an irregularity was observed at the third cervical vertebral body.Doppler echocardiographic examination confirmed the absence of any cardiac flow irregularities.On the basis of the above-mentioned findings, a diagnosis of bilateral fibular hemimelia and proximal femoral focal deficiency (PFFD) was made.
DiscussionFibular hemimelia, congenital absence or deficiency of the fibula, ranges from mild hypoplasia to complete Fig. 1Anterior-posterior radiograph shows the bilateral absence of the proximal femur (proximal femoral focal deficiency) with complete absence of the left fibula and the proximal two-thirds of the right fibula missing.