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Femoral Hypoplasia

Congenital Short Femur


Presentation

  • A case that demonstrates the prenatal morphologic and biometric abnormalities, and postnatal findings are presented. The pathogenesis and natural history of FH/UFS is discussed and contrasted with the caudal dysplasia syndrome.[ncbi.nlm.nih.gov]
  • A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome.[ncbi.nlm.nih.gov]
  • A black American infant presented with typical findings of femoral hypoplasia--unusual facies syndrome, chromosome X trisomy in cultured lymphocytes, and a family history of mirognathia among first- and second-degree maternal relatives.[ncbi.nlm.nih.gov]
  • In this case report, we present a patient with right teratologic high hip dislocation, femoral hypoplasia and below-knee hemimelia associated with left fibular hemimelia.[ncbi.nlm.nih.gov]
  • 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.[ncbi.nlm.nih.gov]
Broad Chest
  • We describe a new case with facial dysmorphism, broad chest and widely spaced nipples, shorter right lower limb with femoral hypoplasia and unilateral fibular hemimelia, bilateral absence of 5th metatarsal and toe, and bilateral talipes equinovarus.[ncbi.nlm.nih.gov]
Sighing
  • […] coverage of heart anomalies, including arrhythmias and early fetal echocardiography The author’s mission continues to be to provide guidance on how to quickly recognize and diagnose congenital fetal anomalies, beginning at the beginning with ultrasound sigh[books.google.com]
Widely Spaced Nipples
  • We describe a new case with facial dysmorphism, broad chest and widely spaced nipples, shorter right lower limb with femoral hypoplasia and unilateral fibular hemimelia, bilateral absence of 5th metatarsal and toe, and bilateral talipes equinovarus.[ncbi.nlm.nih.gov]
Shortened Nose
Absent Kidney
  • Femoral hypoplasia/unusual facies syndrome Relevant markers: Absent femur Absent kidney Bowed femur Fractured femur Hypoplastic femur/s Long philtrum Low set ear/s Mandibular asymmetry Maternal diabetes mellitus Micrognathia/retrognathia Rhizomelia/short[phenotip.com]
  • Absent kidney. Others. Preaxial polydactyly of the feet. Fused or missing ribs. VSD, pulmonary stenosis, truncus arteriosus. Craniostenosis. Daentl DL et.al. Femoral hypoplasia-unusual facies syndrome. J Pediatr 1975;86:107. Lampert RP.[fetalultrasound.com]

Treatment

  • The third section analyzes the treatment modalities, including several chapters on the relationship of sports therapy to the treatment plan.[books.google.com]
  • Make informed clinical choices for each patient , from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • الصفحة 131 - GUSTILO, RB, and ANDERSON, JT: Prevention of Infection in the Treatment of One Thousand and Twenty-five Open Fractures of Long Bones. Retrospective and Prospective Analyses. J. Bone and Joint Surg., 58-A: 453-458, June 1976. ‏[books.google.com]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Congenital abnormalities of the femur and related lower extremity malformations: classification and treatment. Proximal femoral focal deficiency: a 50-year experience. Proximal femoral focal deficiency: natural history and treatment.[wheelessonline.com]

Prognosis

  • Prenatal sonographic features, differential diagnosis, prognosis and management are discussed. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow-up.[ncbi.nlm.nih.gov]
  • The clinical findings, the differential diagnosis with other pathologies characterized by hypoplasia femoral, and the prognosis are discussed. 2013 Wiley Periodicals, Inc.[doi.org]
  • Prenatal sonographic features, differential diagnosis, prognosis and management are discussed. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow-up. 2005 S.[karger.com]
  • The prognosis can be variable depending on the presence of associated anomalies Promoted articles (advertising)[radiopaedia.org]
  • Surgical reconstruction results in a good prognosis.[sjmms.net]

Etiology

  • Etiology is idiopathic, sporadic, few families have been reported to have autosomal dominant inheritance.[ncbi.nlm.nih.gov]
  • Although the etiology of this condition is unknown, clear relationship with maternal insulin-dependent diabetes has often been reported, which suggests some sort of inherited component. Nevertheless, most cases occur sporadically.[ncbi.nlm.nih.gov]
  • Poor diabetic control, exposure to drugs, viral infections, radiation, focal ischemia and trauma between the 4th and 8th week of gestation have been implicated as possible etiological factors.[ncbi.nlm.nih.gov]
  • We assume, therefore, that the etiology of FH-UFS is multifactorial.[ncbi.nlm.nih.gov]
  • FEMORAL HYPOPLASIA – UNUSUAL FACIES SYNDROME The etiology of this syndrome is unknown. The vast majority of cases are sporadic, however a familial occurrence has been reported raising the possibility of autosomal dominant inheritance.[fetalultrasound.com]

Epidemiology

  • Introduction Congenital defect of the proximal femur spectrum of disease includes absent hip femoral neck pseudoarthrosis absent femur shortened femur Epidemiology location bilateral (15%) Pathophysiology defect in the primary ossification center (cartilage[orthobullets.com]
Sex distribution
Age distribution

Pathophysiology

  • Introduction Congenital defect of the proximal femur spectrum of disease includes absent hip femoral neck pseudoarthrosis absent femur shortened femur Epidemiology location bilateral (15%) Pathophysiology defect in the primary ossification center (cartilage[orthobullets.com]

Prevention

  • الصفحة 131 - GUSTILO, RB, and ANDERSON, JT: Prevention of Infection in the Treatment of One Thousand and Twenty-five Open Fractures of Long Bones. Retrospective and Prospective Analyses. J. Bone and Joint Surg., 58-A: 453-458, June 1976. ‏[books.google.com]

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