Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report

Abstract

Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis. Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after birth, and conservative orthopaedic management was decided. Conclusion. Though rarely seen, postaxial longitudinal limb defect may be detected by ultrasound. The correct approach can only be decided after birth, when the functional impact of the anomaly can be fully evaluated.

Prenatal diagnosis of tibial hemimelia type I and omphalocele, a rare entity and postnatal correlation

“…However, the complete understanding of the physiopathology has not yet been achieved. 3 The fibula is always present and can be normal, dysplasic or even duplicated; quadriceps may be normal, with a distal deficiency or its absence; with the same situation applying to the patella and knee ligaments. The knee can be present in complete extension, flexed contraction, or dislocated, while the ankle can be normal or presented as…”

Postaxial hypoplasia of the lower extremity (fibular hemimelia) presenting in a young adult male

“…The goal of this plan is to correct all of the deformities and deficiencies in the fewest number of surgeries spread throughout the growth years of the child. Surgical methods including limb lengthening, epiphysiodesis, amputation, or prosthetic rehabilitation are available in order to achieve equal limb length and functional hip, knee, and ankle joints [2], [5].…”

“…In two-thirds of patients with PHLE, unilateral involvement occurs. But in the cases which PHLE is a component of a complex syndrome, the disorder is usually bilateral [2], [4]. We herein present a case of a PHLE, who had a mild limb length discrepancy accompanied by unilateral extensive tarsal coalition and oligodactyly.…”

“…PHLE is rare, with an incidence of 5.7-20 cases per 1 million births [2]. The etiology of the disorder remains unclear, and the majority of the reported cases of PHLE develop sporadically without an evidence of an inheritable disorder or a family history of other birth defects.…”