Lower limb congenital anomalies.

Congress:

ECR 2020

Poster Number:

C-14789

Type:

Educational Exhibit

Keywords:

Paediatric, Anatomy, Bones, Extremities, Conventional radiography, CT, Ultrasound, Diagnostic procedure, Congenital, Developmental disease, Not applicable

Authors:

S. A. M. Ibrahim, H. Esmayil, T. Salem Alyafei; Doha/QA

DOI:

10.26044/ecr2020/C-14789

DOI-Link:

https://dx.doi.org/10.26044/ecr2020/C-14789

Fig. 2: Proximal focal femoral deficiency

Fig. 3: Proximal focal femoral deficiency and fibular hemimelia

Fig. 4: Fibular Hemimelia with syndactyly

Fig. 5: Tibial hemimelia

Learning objectives

Recognize the most common lower limb anomalies. Radiological findings in some of lower limb anomalies Further imaging in cases of syndromic patients.

Background

Lower limb malformations can be isolated or sporadic events and sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. Congenital limb malformations are the second most common birth defects, ranking only behind congenital heart disease [1]. Can be genes mutations, such as the “homebox” genes and fibroblast growth factors and their receptor genes [2]. Can be due to soft-tissue and/or vascular disruption defects, such as amniotic band-related limb deficiency, and environmental factors, such as...

Findings and procedure details

1. Proximal focal femoral deficiency (PFFD): PFFDis a rare abnormality of the proximal femur with an incidence of 1 in 52,000 live births [4]. It can range from mild shortening to severe deficiency of the femoral head, acetabulum, and femoral shaft. Most cases are sporadic. Autosomal Dominant inheritance, presence of bilateral PFFD with abnormal facies. Common associations are fibular hemimelia and absent patella. Figure1 shows the Aitken classification of PFFD[5,6]. Ultrasound findings ofPFFDinclude normal anatomic landmarks such as the acetabular labrum, acetabular roof, lower edge...

Conclusion

Anomalies of the lower limb are rare, likely unilateral and isolated. Pediatricians should be familiar with the most common malformations for further management (imaging to follow X-ray and genetic workup) if needed [9].

Personal information and conflict of interest

H. Esmayil; Doha/QA - nothing to disclose S. A. M. Ibrahim; Doha/QA - nothing to disclose T. Salem Alyafei; Doha/QA - nothing to disclose

References

1. Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M Am J Hum Genet. 1998 Jan; 62(1):130-5. 2. Limb anomalies: Developmental and evolutionary aspects. Gurrieri F, Kjaer KW, Sangiorgi E, Neri G Am J Med Genet. 2002 Dec 30; 115(4):231-44. 3. Morrissy R.Lovell’s and Winter’s pediatric orthopaedics. 5th ed. Philadelphia, Pa: Lippincott Williams & Wilkins,2001; 1218–1247. 4. Biko DM,Davidson R,Pena A,Jaramillo D.Proximal focal femoral deficiency: evaluation by MR imaging.Pediatr Radiol2012;42(1):50–56. 5. Aitken...