A case of bilateral tibial hemimelia type VIIa
A male infant was born at 38 weeks gestation to a 28-year-old Gravida 3, Para 2, mother with two living issue. Except for fever of 1 week duration (cause not known) during the first trimester, the antenatal period was mostly uncomplicated, without any history of diabetes or hypertension. His mother was a non-smoker, but had undergone chest X-ray once during the first trimester for fever work-up. There was no history of any teratogenic drug intake by the mother including routine multivitamin supplementation also.\nAntenatal ultrasound carried out in another hospital showed normal amount of amniotic fluid. Abnormalities, all located in the bilateral lower limbs included, club-foot, tibial agenesis, and distal femoral bifurcation. The upper limbs were normal, and there were no other notable malformations. Previous pregnancies were normal without any gross congenital malformations. Parents were of Indian descent with no evidence of consanguinity.\nHe was born by elective caesarean-section (indication being previous caesarean-section secondary to failed induction), with APGAR score being, 8/10 and 9/10. His birth weight was 2.9 kg (appropriate for gestational age), head circumference was 33.5 cm (50-75th centile), and upper segment length was 29 cm (normal). He did not require any intervention at birth.\nOn examination, both knees were flexed and held at 30°. Both feet showed equinovarus deformity. The leg segment was internally rotated to 60° bilaterally and bony prominence was seen on the lateral aspect of the knee joint on both sides []. The child had an absent quadriceps mechanism with dysfunctional knee and ankle joints bilaterally. Voluntary extension and flexion was absent on both knees. The radiological evaluation revealed a normal hip joint. The lower end of femur was normal and patella was present. Complete absence of both tibiae was noted with small cartilaginous anlage, and fibula was present on both legs without any sign of doubling []. Calcaneus was displaced anteriorly and was higher than the lower end of fibula. Both the right and left foot had three tarsal bones, two metatarsals, and three toes each having two phalanges each []. The musculo-skeletal system of upper limb did not reveal any abnormality, and there was no dysmorphic facies. Systemic examination also did not reveal any abnormality, except that the genitalia were dark pigmented. The newborn was started on breast-feeding, which he was accepting well.