Femoral Hypoplasia-unusual Facies Syndrome Research Articles

Anesthetic Management for a Patient with Femoral Hypoplasia-Unusual Facies Syndrome

Anesthetic Management for a Patient with Femoral Hypoplasia-Unusual Facies Syndrome

Prenatal diagnosis of femoral hypoplasia-unusual facies syndrome associated to sacral hemivertebra

Femoral hypoplasia-unusual facies syndrome (FH-UFS), also known as femoral-facial syndrome, is an extremely rare condition. The diagnostic criteria for this entity include: femoral hypoplasia in association with facial dysmorphism. Its pathogenesis is unknown. However, it has been associated with insulin-dependent diabetes mellitus during pregnancy. The present is a case of a pregnant woman with type-2 diabetes mellitus with a 17-year disease course without associated complications. The first-trimester screening ultrasound study revealed a female fetus with micrognathia and low-set ears. On week 22+4 of pregnancy, ultrasound showed a fetus with micrognathia, bilateral femoral agenesis, and hemivertebra at the S3-S4 level associated with a skin defect at the same level.

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.

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration

ObjectiveSkeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. Materials and MethodsWe introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. ResultsHerein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed. ConclusionTargeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders.

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

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

Caudal Dysplasia, Femoral Hypoplasia-Unusual Facies Syndrome and Absent Radius: A New Association in Infant of Diabetic Mother?

The Caudal dysplasia syndrome (CDS) and the femoral hypoplasia-unusual facies syndrome (FHUFS) have been reported to be more frequent among infants of diabetic mothers (IDMs). Infact, uncontrolled maternal diabetes is the most common cause of both the syndromes. Till now, there is no case report to suggest absent radius as a manifestation of IDMs. The authors report a rare case of newborn, who presented with features compatible with both CDS and FHUFS with an additional feature of absent radius, which is not reported in the literature so far. The possibility that all these features represent different manifestations of the same disorder is discussed here.

P09.20: Femoral hypoplasia unusual facies syndrome

P09.20: Femoral hypoplasia unusual facies syndrome

P28.07: Short and bent femur in skeletal dysplasias: insights inferred from a fetus with femoral hypoplasia‐unusual facies syndrome (FHUFS)

P28.07: Short and bent femur in skeletal dysplasias: insights inferred from a fetus with femoral hypoplasia‐unusual facies syndrome (FHUFS)

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.

Femoral–facial syndrome with malformations in the central nervous system

The femoral hypoplasia–unusual facies syndrome (FFS) is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum. The psychomotor development has been normal. We propose that the CNS defects observed in these patients are part of the spectrum of abnormalities in the FFS.

Femoral‐facial syndrome–prenatal diagnosis–autosomal dominant inheritance

Fetal micrognathia and short, bowed femora were found on a routine prenatal ultrasonogram. At birth, a cleft palate and the characteristic facial appearance confirmed the diagnosis of the femoral-facial syndrome. (The femoral-facial syndrome [McKusick 137840] was first delineated by Daentl et al. [1975: J Pediatr 86:197-211] and called the "femoral hypoplasia-unusual facies syndrome." We prefer the "femoral-facial syndrome" because it is shorter, more easily translated, and because the McKusick catalog is the most widely recognized standard of nomenclature.) A paternal great uncle, deceased at age 4 years, seems to have had the same condition.

Femoral hypoplasia unusual facies syndrome with preaxial polydactyly

Preaxial polydactyly of the foot is an unusual feature in femoral hypoplasia unusual facies syndrome, having been recorded with certainty in only two previous reports. We now add a further two instances of this rare association and emphasize that this finding should not preclude the underlying syndromic diagnosis.

Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers

Three children with the femoral hypoplasia-unusual facies syndrome are described. Two had the characteristic facial pattern of upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, and hypoplastic alae nasi. The other, an infant girl who died within 24 hours after birth, had a cleft lip, which distorted some of the other features. She also had a cleft palate, as did one of the two older boys. All three children had ear defects, upper limb involvement, and rib, vertebral, lower extremity, and genitourinary tract abnormalities. The infant girl died of lung hypoplasia associated with dysplastic kidneys and widely patent ductus arteriosus. All three were infants of diabetic mothers, one mother having developed overt diabetes in the first trimester of pregnancy. A literature review of 36 reported cases of FH/UFS revealed 12 individuals who were IDMs, establishing a strong relationship of the syndrome with maternal diabetes. A multifactorial inheritance model fits with the reported patients, with the relationship to diabetes, and with the similarity of FH/UFS to caudal regression, another condition related to maternal diabetes.

Case Report: Femoral hypoplasia — unusual facies syndrome

ABSTRACT. A patient with the femoral hypoplasia — unusual facies syndrome (FH-UFS), is presented. The features are quite striking and should be easily recognised at birth. Although rare, we are aware of 16 other patients in the literature and have reviewed their features. In addition to the facial features and short femora this patient had limited movement of the shoulders, small auditory canals with conductive deafness, gastro-oesophageal reflux, and absence of the introitus vaginae. These additional abnormalities broaden the range of features reported in the FH-UFS. Current evidence favours a new dominant mutation as a cause of this syndrome.