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Hemimelia and Absence of the Peroneal Artery Journal of Perinatology (2014) 34, 156–158 & 2014 Nature America, Inc. All rights reserved 0743-8346/14 www.nature.com/jp PERINATAL/NEONATAL CASE PRESENTATION Hemimelia and absence of the peroneal artery S Huda1, G Sangster2, A Pramanik3, S Sankararaman4, H Tice5 and H Ibrahim3 The arterial patterns of the lower extremities of three patients with congenital absence fibulae (hemimelia) were evaluated to determine whether the relationship existed between the absence of peroneal artery and hemimelia. Computerized tomograph angiography revealed the absence of peroneal artery in all the patients with dysplastic limbs and absent fibula. Journal of Perinatology (2014) 34, 156–158; doi:10.1038/jp.2013.137 Keywords: hemimelia; peroneal artery; angiogensis INTRODUCTION spontaneously in the first year and she received prosthesis for the Hemimelia is the commonest long bone deformity with and right lower extremity deformity. estimated prevalence of 5.7 to 20 cases per 1 million live births.1,2 A range of clinical and radiographic abnormalities has been described in patients with congenital fibular deficiency. These are CASE 2 often associated with limb anomalies in both upper and lower M.J. was a female infant born at 37 weeks to a 29-year-old extremities.3–5 Vascularization of tibia, proximal part of the femur multigravida. There was no history of exposure to teratogens or and the fibula occurs between 4 and 7 weeks of embryogenesis. viral illness during pregnancy. Mother had two prior spontaneous The peroneal artery arises from the posterior tibial artery below abortions, and no family history of congenital anomalies. Prenatal the knee, supplying perforating branches to the lateral and ultrasound showed lumbosacral meningocele and hydrocephalus. anterior compartments of the leg and a nutrient artery to the Amniotic fluid analysis for quad screening test and acetyl fibula. We report three newborn infants with hemimelia with cholinesterase were negative. Fluorescent in situ hybridization absent fibula and peroneal artery. analysis of the amniotic fluid was unremarkable. Routine prenatal serologies were negative. Apgar scores were 6 and 9 at 1 and 5 min, respectively. At birth, CASE 1 multiple abnormalities were noted, which included a shorter left J.M. a female infant was a monochorionic-diamniotic twin born to lower extremity, bilateral club feet along with lumbosacral a 19-year-old primigravida with class A1 diabetes and polyhy- meningomyelocele and large head (head circumference 38 cm dramnios at 34 weeks gestation and weighed 1910 g. The prenatal 497th percentile). Echocardiogram was unremarkable. Cranial diagnostic workup was unremarkable with 46XX on amniocent- ultrasound showed dilatation of lateral and third ventricles. Renal esis. There was no exposure to: teratogenic drugs, alcohol, ultrasound showed bilateral hydronephrosis with normal voiding irradiation, viral illness, nicotine during pregnancy. The family cystourethrogram. Skeletal survey of the lower extremities history was unremarkable. Apgar scores were 8 and 9 at 1 and confirmed the limb length discrepancy and showed deformed, 5 min, respectively. The baby was admitted to the neonatal bowed distal tibiae with bilateral club feet. The left fibula was intensive care unit. absent; hence, CTA was done, which revealed three vessels in the At birth, multiple abnormalities were noted, which included a right leg, namely the peroneal artery, anterior and posterior tibial single umbilical artery, right sided shorter leg, absent foot (Figures arteries, but only two vessels on the left side, that is, the anterior 1a and b) and absent thumb and clinodactyly with a longer fourth and posterior tibial arteries (Figures 2a–c) with absence of finger. The face was asymmetrical possibly due to absent peroneal artery. Her newborn screening including hearing depressor anguli oris. She also had sub-aortic perimembranous assessment was normal. She was discharged home at 2 weeks ventricular septal defect found on echocardiography. Cranial of age with follow-up by her pediatrician and orthopedic surgeon. ultrasound and magnetic resonance imaging of the brain were normal. Skeletal survey showed an absence of right fibula along with hypoplastic right first rib, partial fusion of the right radius and CASE 3 ulna, shorter right radius and absent right thumb with a W.C. a male infant, born at 41 weeks gestation to a 17-year-old corresponding absence of the first metacarpal bone. A computer- primigravida, weighing 3450 g. Apgar scores were 7 and 8 at 1 and ized tomograph angiography (CTA) of the lower extremities 5 min, respectively. Prenatal serologies were normal. Pregnancy revealed normal popliteal arteries on both sides, but an absent was complicated by hypertension and oligohydramnios. There peroneal artery on the right side. The patient was discharged at 12 was no family history of congenital anomalies. days of age with follow-up in cardiology and orthopedic clinics in At birth, multiple deformities of the extremities as described addition to her pediatrician. The ventricular septal defect closed below were noted including claw hand and claw foot. Skeletal 1Department of Neonatal-Perinatal Medicine, LSU-Health, Shreveport, LA, USA; 2Department of Radiology, LSU-Health, Shreveport, LA, USA; 3Department of Pediatric Neonatal- Perinatal Medicine, LSU-Health, Shreveport, LA, USA; 4Department of Pediatrics, LSU-Health, Shreveport, LA, USA and 5Department of Pediatric Pharmacy, LSU-Health, Shreveport, LA, USA. Correspondence: Dr H Ibrahim, Department of Pediatric Neonatal-Perinatal Medicine, LSU-Health, 1501 Kings HWY, PO Box 33932, Shreveport, LA 71103, USA. E-mail: [email protected] Received 9 September 2013; accepted 25 September 2013 Hemimelia and absence of the peroneal artery S Huda et al 157 Figure 1. (a) Frontal skeletal radiograph showing absent fibula and foot. (b) Frontal three-dimensional Volume Rendering Reconstruction of both lower extremities demonstrates the absence of the right fibula and foot. RA, right side. Figure 2. (a) Three-dimensional Volume Rendering Reconstruction of the left lower extremity showing absence of fibula with normal foot. (b) Axial computerized tomograph angiography of the left lower extremity shows a two vessels run-off with absence of the peroneal artery and fibula. Long arrow indicates anterior tibialis artery. Short arrow depicts posterior tibialis artery. (c) Curve Maximum Intensity Projection reconstruction of the left leg demonstrates patent anterior (short arrow) and posterior (long arrows) tibialis arteries. The peroneal artery is absent. surveys confirmed numerous abnormalities. The right hand had aspect of the right leg, three vessels were seen but on the left side three digits with clinodactyly of the second and third digits. The only two vessels were noted. right foot had four metacarpal bones with fusion of the second Newborn screening was normal and the patient was discharged and third metacarpal bones distally. On the left hand, there were on the 4 day with outpatient orthopedic follow-up. five metacarpals with five digits. The third and fourth fingers were fused involving the soft tissues. There was partial absence of the medial aspect of the distal phalanx of the third finger and partial fusion of the middle phalanges of these two fingers in the DISCUSSION proximal aspect. An accessory bone oriented transversely Fibular aplasia (also known as fibular hemimelia, fibular deficiency) between the bases of the second and third fingers, distal to the is a rare disorder, often associated with long bone anomalies. In second and third metacarpals and clinodactyly of second–fourth the less severe malformations (10% of the total), partial unilateral fingers. These digital abnormalities formed split claw deformity. deficiency of the fibula has been noted, with a less than 15% Radiographs of the lower extremities showed bilateral absent decrease in leg length.6 Three types of congenital fibular fibulae and bilateral subluxation of the knees. The distal right tibia deficiency has been described, which include type I with was curved. The talus was superiorly positioned with respect to hypoplastic fibula, type II with rudimentary or absent fibula and distal tibiae on both sides. Two metatarsal bones were seen on the type III with bilateral fibular deficiency.6 In majority of patients left side with two toes and only one metatarsal seen on the right with fibular hemimelia, fibula is either aplastic or almost with one toe. Calcanael bones were absent on both sides. completely absent. Most infants have associated deformities of Cranial, renal ultrasound and an echocardiogram were normal. extremities, such as femoral shortening, anteromedial tibial CTA of the extremities confirmed bilateral absence of fibula. The bowing, marked talipes equinovalgus and absence of one or common iliac arteries and its branches were normal. Femoral more lateral rays of the foot.7 Fibular hemimelia is often associated and popliteal arteries were normal on both sides. In the proximal with abnormalities of lower extremity and pelvic bones.3–5,8,9 & 2014 Nature America, Inc. Journal of Perinatology (2014), 156 – 158 Hemimelia and absence of the peroneal artery S Huda et al 158 The extent of fibular deficiency is variable, hence, varying hypoplasia. Our hypothesis is that the absent peroneal artery is classification have been proposed.4,6,10 Achterman and Kalamchi secondary to absent fibular bud. Fibular bud will send mechan- suggested a classification using fibula length deficiency.10 ical,14 hormonal or secret enzymes to Ischaidic
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