Spot Diagnosis

A Newborn with Lower Limb Deformity in Tibia and Fibula, and Oligodactyly

Samet Benli, Leyla Bulut, Cihat Aydoğan, Berivan Karataş, Talha Ataşçi, Erdal Taşkin, Mustafa Aydin
Department of Pediatrics-Neonatology, Faculty of Medicine, Firat University, Elazig, Turkey

Address for Correspondence: Mustafa AYDIN, Pediatrics-Neonatology Department, Faculty of Medicine, Firat University, 23200, Elazig, Turkey.
Keywords : Congenital anomalies; FATCO syndrome; Fibular aplasia; Tibial campomelia; Oligodactyly
Question :
A female neonate born at 34 weeks of gestation by cesarean section from a 28-year-old healthy mother with gravity 5 and parity 5 was admitted to the neonatal intensive care unit (NICU) for further evaluation and treatment due to an anomaly in her lower extremity. Apgar scores were 4 and 6 at the 1st and 5th minutes. Antenatal history revealed irregular pregnancy follow-up without fetal anomaly on obstetric ultrasound. There was no maternal history of teratogen exposure, except for 1-2 cigarettes per day throughout the pregnancy. There was no kinship between the parents, the other children were alive and healthy. Parental history revealed methamphetamine and marijuana use for the last ten years. On examination, the baby weighed 2350 gm (25-50th centile), height was 46 cm (50th centile) and head circumference was 32 cm (25-50th centile). Physical examination was normal except for the bowed and short left leg, and oligodactyly (3 fingers) without syndactyly in the left foot. There was a skin pit over the tibia (Figure 1). Radiography showed that the left fibula was absent in addition to the campomelic left tibia (Figure 2A), three metatarsals and phalanges in the left foot (Figure 2B). No additional pathological finding was found on echocardiography, and cranial and abdominal ultrasonography. She was found to have normal 46, XX karyotype. After the parents were informed about the future limb lengthening surgery and orthosis, the patient was discharged for long-term follow-up.

Figure 1. Picture showing the curved and short left leg, a skin pit on the tibia, and oligodactyly (3 fingers) in the left foot.

Figure 2. (A) Radiographs showing the absence of the left fibula, the campomelic left tibia.

Figure 2. (B) Radiographs showing the three metatarsals and phalanges of the left foot.

What is the diagnosis?
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