Bilateral Femoral Hypoplasia Research Articles

Left femoral hypoplasia associated with congenital fibular agenesis – A rare case report

Background and objectives. Unilateral or bilateral femoral hypoplasia represents a rare clinical entity and it can be isolated or associated with otherlimb malformations such as: congenital absence of the fibula (the most common association), the absence of lateral foot rays or clubfoot, or other organ defects such asspinal dysraphism, or congenital cardiac malformations. Only a few cases have been detected by antenatal ultrasonography so far. Materials and methods. We present the case of a newborn admitted at birth in the Neonatology Department of County Emergency Clinical Hospital of Constanta, diagnosed prenatally with left femur hypoplasia, confirmed postnatally. Results. The subject is a full-term female neonate, born at 38 weeks gestational age, with a birth weight of 2600 g, Apgar Score of 9. The mother is 39-year-old, Gravida-I, Para-I, with no medical history of consanguinity, genetic or congenital abnormalities, exposure to toxins, teratogen drugs, or viral infections. The 14 weeks and 16 weeks ultrasound revealed a shortened left femur, below the 5th percentile, with no other facial morphology, cardiac, neurologic, gastrointestinal, or genitourinary system abnormalities mentioned. A cesarean section was performed at 38 gestational weeks (premature rupture of membranes, breech presentation). The diagnosis was confirmed postpartum by X-ray. Conclusions. The presented case emphasizes the importance of prenatal care and early detection of skeletal abnormalities for parental education and genetic counseling, offering an informed choice whether to continue with the pregnancy and planning for postnatal care with a multidisciplinary team: obstetrics and gynecology, neonatology, and pediatric orthopedic surgery.

FEMORAL-FACIAL SYNDROME - A RARE CASE REPORT

Femoral-facial syndrome (FFS) is an extremely rare fetal malformation. It comprises bilateral femoral hypoplasia and craniofacial dysmorphism. Maternal diabetes is associated with approximately 40% of cases of FFS. We present the case of Femoral-Facial syndrome of Newborn female child. She was delivered by vaginal route at 36th week of gestation. Mother had a history of type 2 diabetes mellitus. She was having markedly shortened bilateral lower limbs, deformed hip joint and mild talipes equino-varus deformity of left foot. There was prominent forehead, short nose with broad tip, long philthrum, thin upper lip, micrognathism and malformed low set external ears. Skeletal radiograph shows complete absence of right femur and marked hypoplasia of left femur.

Femoral hypoplasia-unusual facies syndrome: a rare clinical entity

Femoral hypoplasia-unusual facies syndrome (FH-UFS) is a disorder with multisystem involvement comprising predominantly of craniofacial dysmorphism with bilateral hypoplastic femurs. The exact etiology of this disorder is unknown, however maternal infections, drug and radiation exposure, oligohydramnios has been implicated. In affected children born to non-diabetic mothers, a genetic contribution is suspected; however, no chromosomal or gene mutations have been identified so far. The syndrome closely resembles with caudal dysplasia or syringomyelia which occur due to insufficient mesoderm in the caudal part of the embryo leading to lumbosacral defects, renal agenesis, and dysplastic lower limbs, however they lack craniofacial dysmorphism. The pathogenesis of FH-UFS involves poor development of subtrochanteric portion of the femoral cartilage. This results in shortening of proximal femur. Maternal diabetes justifies the teratogenic effect of hyperglycemia and ketones on fetus leading to dysmorphic features in fetus. Here, we are reporting a female neonate with characteristic phenotypic features of FH-UFS. She had cleft lip and palate, low set ears, retrognathia and micrognathia, dolichocephaly with bilateral femoral hypoplasia with talipes deformity of both feet. Karyotype was normal (46XX). Renal and cranial ultrasounds were normal. The 2D Echo revealed small 0.3mm PDA.

Femoral hypoplasia- unusual facies syndrome: A case report and literature review

The femoral hypoplasia- unusual facies syndrome (FH/ UFS); also known as femoral facial syndrome (FFS), is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies.The two principal characteristics of this syndrome, micrognathia and shortened femur, can be demonstrated by sonographic (US) imaging in the early stages of pregnancy. This disorder was first discovered by Daentt et al in 1975 and is more common in females. The femoral hypoplasia- unusual facies syndrome is a rarely considered clinical entity that has a strong association with maternal diabetes.This report describes a case of FH/ UFSfollowed in our Physical and Rehabilitation Medicine (PRM) departmentfor proximal bilateral femoral agenesis.Hehad facial dysmorphia, bilateral testicular agenesis with a rare finding like bilateral second toe supraductus.

Femoral Hypoplasia-Unusual Facies Syndrome: A Case Report

The femoral hypoplasia-unusual facies syndrome (FH-UFS) is a very rare association of femoral and facial abnormalities. We report a 19 days old male baby with bilateral femoral hypoplasia and cranio-facial dysmorphism including low set ears, upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, hypoplastic alae nasi, short broad tipped nose, and cleft palate. Tongue tie was also present as an additional feature.J Bangladesh Coll Phys Surg 2015; 33(4): 229-231

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

The femoral facial syndrome (FFS) is a rare congenital anomaly syndrome characterized by bilateral femoral hypoplasia and facial dysmorphism. The etiology of FFS is currently unknown but maternal/gestational diabetes has been proposed as a strong risk factor for syndromic femoral hypoplasia. In affected children born to non-diabetic mothers, a genetic contribution to FFS is suspected; however, no chromosomal anomalies or gene mutations have been identified so far. Here, we report on a girl with FFS and a de novo complex chromosome rearrangement of terminal chromosome 2q37.2. Radiographs of the pelvis and lower limbs showed bilateral shortening and bowing of the femur and radiographs of hands and feet revealed a brachydactyly type E (BDE). Using high resolution array-CGH, qPCR, and FISH, we detected a ~1.9 Mb duplication in the chromosomal region 2q37.2 and a ~5.4 Mb deletion on chromosome 2q37.3 that were absent in the parents. The duplication contains six genes and the deletion encompasses 68 genes; the latter has previously been shown to cause BDE (through haploinsufficiency for HDAC4) but not femoral hypoplasia. Therefore, we propose that the duplication 2q37.2 could be causative for the femur phenotype. To the best of our knowledge, our report is the first to propose a genetic cause in a case of FFS.

Prenatal diagnosis of femoral‐facial syndrome: Case report

Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome, is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies. This report describes a case of FFS diagnosed after 13 weeks of pregnancy following the detection of severe micrognathia and bilateral shortening of the femur in the fetus of a patient with DM. The sonographic evolution from the first trimester until birth is described. The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed.

Anesthetic experience in a child with femoral hypoplasia-unusual facies syndrome

Anesthetic experience in a child with femoral hypoplasia-unusual facies syndrome

Diagnosis of femoral hypoplasia–unusual facies syndrome in the fetus

Femoral hypoplasia-unusual facies syndrome (FHUFS) is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial clefting and other minor malformations. The prenatal diagnosis of this condition is possible, but so far has been reported prospectively in only two cases. We review all cases of FHUFS reported in the literature and also describe three cases detected prenatally in the mid-trimester, underlining the variable expression of the syndrome. The reported association with maternal diabetes mellitus and differential diagnosis with other syndromes characterized by femoral hypoplasia are also discussed.

Femoral Hypoplasia— Unusual Facies Syndrome

Femoral hypoplasia—unusual facies syndrome is an extremely rare form of skeletal malformations with both femoral and facial abnormalities. Insulin-dependent diabetes mellitus has been reported as the main contributing factor to its development. Common sonographic findings include bilateral femoral hypoplasia and facial dysmorphism. Aside from complications due to physical limitations, most patients are able to live relatively normal lives. Several differential diagnoses can be made from sonographic findings; therefore, complete and thorough examinations must be performed by the sonographer.

Bilateral femoral hypoplasia associated with Rokitansky sequence: Another example of a mesodermal malformation spectrum?

We report on a woman with bilateral femoral hypoplasia and Rokitansky sequence, malformations that up to now had not been described together. There are no other cases in the family, and no history of prenatal teratogen exposure. This case may be part of a mesodermal malformation spectrum.