VACTERL Associated with a Rare Limb Anomaly Combined with Edward (Trisomy 18) Syndrome.

VACTERL association is a heterogeneous condition that includes at least three out of six core structural defects which occur together more commonly than would be expected by chance alone. We report a rare association of VACTERL with unilateral proximal focal femoral deficiency and trisomy 18 syndrome.

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.

Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shortening and hypoplasia to the absence of any functional femur and acetabular aplasia. Prenatal diagnosis of PFFD is still a challenge, but early recognition of this malformation could provide useful information to both parents and physicians concerning management and therapeutic planning. For this review, we analyzed all the cases of prenatally diagnosed PFFD that were reported in the literature from 1990 to 2014 and provide a description of the most common prenatal sonographic findings.

Prosthesis for Unilateral Isolated Proximal Focal Femoral Deficiency: A Case Report and Review of the Literature.

A 14-month-old female child was brought to us by her parents with the complaint of progressive shortening of her right lower limb since birth. Born to non-consanguineous parents from a poor socioeconomic background, her birth and antenatal history were uneventful. Physical examination revealed no facial dysmorphism; however, her right thigh was short and bulky, and there were restrictions in hip, knee, and ankle movements. The pediatric evaluation showed normal growth and development. X-rays confirmed proximal femoral focal deficiency (PFFD) of the right lower limb. After extensive parental counseling regarding the condition, potential interventions, and outcomes, the parents opted for prosthetic management due to concerns about surgical costs, risks, and cosmetic outcomes. A custom-made extension prosthesis was prepared for the limb and was fit. At a follow-up of one year, the child exhibited a normal gait pattern with stable hip, knee, and ankle motion, and the parents expressed satisfaction with the prosthetic management, preferring it over surgical intervention for the time being.

Can Adding BMP2 Improve Outcomes in Patients Undergoing the SUPERhip Procedure?

Congenital femoral deficiency (CFD) Paley type 1b is characterized by severe bony deformity of the upper femur, extra-articular contractures of the hip, and, delayed ossification of the femoral neck and/or subtrochanteric region. The Systematic Utilitarian Procedure for Extremity Reconstruction of the hip (SUPERhip) procedure for the correction of CFD deformities was developed in 1997. Initially, a non-fixed angle device (rush rod) was used for fixation. Late complications of persistent delayed ossification and recurrent varus deformity occurred. In order to reduce and treat such complications, fixation with a fixed angle device and the off-label use of BMP2 to induce ossification of the un-ossified femoral neck were employed. The purpose of this study is to determine if the use of a fixed angle device, and, BMP2 inserted into a drill hole in the cartilage of the femoral neck, decreases the incidence of these late complications. We retrospectively reviewed 72 SUPERhip procedures performed for Paley type 1b CFD between 1997 and 2012. Due to recurrent varus or persistent delayed ossification of the femoral neck, 34 revision SUPERhip procedures were performed. In total, 106 SUPERhip procedures were studied. Sixty-eight SUPERhips were performed using internal fixation without BMP2, while 38 SUPERhips were performed with both internal fixation and the addition of BMP2. Forty-one were performed using non-fixed angle internal fixation while 65 had fixed angle internal fixation. Fixed angle devices significantly reduced the incidence of recurrent varus compared with non-fixed angle devices. Inserting BMP2 in the femoral neck significantly reduced the incidence of persistent delayed ossification. Using only a fixed angle device but no BMP2 did not reduce the incidence of delayed ossification. The combination of both a fixed angle device and BMP2 reduced the incidence of recurrent coxa vara and persistent delayed ossification of the femoral neck. The SUPERhip procedure corrects the pathoanatomy of the proximal femur in CFD Paley type 1b but is associated with a very high risk of recurrence of coxa vara and persistence of femoral neck delayed ossification, unless, a fixed angle internal fixation device is used to prevent recurrent coxa vara and BMP2 is used to induce ossification of the femoral neck.

Association of upper limb meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition in a young adult male.

Meromelia refers to the partial absence of at least 1 limb and is also referred to as "terminal transverse hemimelia." It can occur in either isolation or with other congenital malformations. There are very few publications in the literature that report meromelia cases accompanied by other congenital anomalies. Proximal focal femoral deficiency is another rare congenital skeletal abnormality and is characterized by the underdevelopment of the proximal part of the femur and shortening of the entire lower extremity. A case of upper limb meromelia accompanied by proximal focal femoral deficiency and fibular hemimelia in a neonate has previously been reported. However, to our knowledge, the association of upper limb meromelia with intermetatarsal coalition has never been reported to date. Here, we present an adult patient showing an unusual association of multiple rare congenital skeletal abnormalities including meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition.

Hospital admissions and surgical treatment of children with lower-limb deficiency in Finland.

BACKGROUND AND AIMS: There are no population-based studies about hospital admissions and need for surgical treatment of congenital lower-limb deficiencies. The aim is to assess the impact children with lower-limb deficiencies pose to national hospital level health-care system. MATERIALS AND METHODS: A population-based study was conducted using the national Register of Congenital Malformations and Care Register for Health Care. All 185 live births with lower-limb deficiency (1993-2008) were included. Data on hospital care were collected until 31 December 2009 and compared to data on the whole pediatric population (0.9 million) live born in 1993-2008. RESULTS: The whole pediatric population had annually on average 0.10 hospital admissions and the mean length of in-patient care of 0.3 days per child. The respective figures were 1.5 and 5.6 in terminal lower-limb amputations (n = 7), 1.1 and 3.9 in long-bone deficiencies (n = 53), 0.6 and 1.9 in foot deficiencies (n = 26) and 0.4 and 2.6 in toe deficiencies (n = 101). Orthopedic surgery was performed in 72% (5/7) of patients with terminal amputations, in 62% (33/53) of patients with long bone, in 58% (14/24) of patients with foot and in 25% (25/101) of patients in toe deficiencies. Half (54%) of all procedures were orthopedic operations. CONCLUSION: In congenital lower-limb deficiencies the need of hospital care and the number of orthopedic procedures is multiple-fold compared to whole pediatric population. The burden to the patient and to the families is markedly increased, especially in children with terminal amputations and long-bone deficiencies of lower limbs.

Midterm follow-up of total hip arthroplasty in a patient with contralateral Van Nes rotationplasty for congenital proximal femoral focal deficiency.

Total hip arthroplasty is a durable and effective operation in those with normal gait patterns. However, to our knowledge, there is no current literature on longevity in patients who have had a contralateral Van Nes rotationplasty for proximal femoral focal deficiency. We found evidence that patients who underwent rotationplasty have increased demands on the contralateral extremity and higher percentage of their gait cycle on the unaffected extremity. Here, we present a unique case report of a 59-year-old male patient with a 6-year follow-up status after left total hip arthroplasty and a right-sided rotationplasty performed during adolescence. Upon chart and radiograph review, we found no early signs of wear of his hip arthroplasty and a fully functioning lower extremity. In our limited experience, we found that total hip arthroplasty was a safe and durable operation for our patient who underwent a contralateral Van Nes rotationplasty at the 6-year follow-up period.

Fetal ultrasound: Early diagnosis and natural evolution of proximal femoral focal deficiency.

Proximal femoral focal deficiency is an extremely rare congenital anomaly with only a few case reports in the literature. This case illustrates one diagnosed by prenatal ultrasound. The diagnosis may be isolated or associated with other abnormalities and syndromes. This report describes the early obstetrical ultrasound diagnosis, its evolution and associated findings throughout pregnancy. To the best of our knowledge, it is the first report associating this diagnosis with sickle cell trait. Another finding in our patient was a concomitant intrauterine growth restriction that we attribute to placental infarctions and a retro placental hemorrhage, also on the basis of sickle cell trait. At birth, placental weight was under the 10th percentile for gestational age. Obstetrical ultrasound in the prenatal diagnosis of proximal femoral focal deficiency is important, because early recognition of this malformation could provide useful information to parents and physicians regarding newborn management and therapeutic planning.