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Femoral Agenesis - Femoral Hypoplasia

Congenital Short Femur


Presentation

  • Practical tables provide a quick reference to essential information, including normal developmental anatomic milestones, developmental anomalies, common presentations and symptoms of diseases, and much more. 400 new and replacement images are added to[books.google.com]
  • Improve your interpretation of presenting symptoms with 39 new topics in the Differential Diagnosis section, and optimize patient care with 12 new tables in the Clinical Practice Guidelines section.[books.google.com]
  • Editors Abstract of papers presented during the 54th National Conference of The Anatomical Society of India, 2006 held at Amrita Medical College, Kochi, Kerala (151 - 199) Editors Abstract of papers presented during the 54th National Conference of The[indmedica.com]
  • […] normal B present mildly dysplastic C absent severely dysplastic D absent absent Presentation Physical exam severe shortening of one or both legs percentage of shortening remains constant with growth short bulky thigh that is flexed, abducted , and externally[orthobullets.com]
  • The clinical presentation of a patient with femoral bifurcation and tibia hemimelia will depend on the severity of the hemimelia, age at presentation and other associated anomalies.[njcponline.com]
Pain
  • 3313 Knee contractures 361 3314 Differential diagnosis of knee pain 364 3315 Indications for imaging procedures for the knee 365 34 Foot and ankle 366 342 Radiographic techniques for the foot and ankle 372 343 Congenital clubfoot 374 345 Other congenital[books.google.com]
  • Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hip pain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices[books.google.com]
  • Case report An 18-year-old nuliparous female presented with pain on the right side of the pelvis for more than 6 months.[ispub.com]
  • , bilateral extremity pain, and right lower extremity weakness, paresthesias, and swelling.[dovepress.com]
  • In 2006, Monllau et al 7 reported the first case of bilateral medial meniscal hypoplasia in a woman with long-term knee pain.[healio.com]
Pathologist
  • Springer Science & Business Media , ٠٩‏/٠٣‏/٢٠١٣ - 241 من الصفحات This book is designed primarily for anatomic pathologists to facilitate their task of accurately diagnosing embryos and fetuses.[books.google.com]
  • The pathologist confirmed the diagnosis of FHUFS and described severely hypoplastic femora, an abnormal left foot and moderate micrognathia (Figure 3 c).[onlinelibrary.wiley.com]
  • Discussion Renal agenesis and dysplasia (both unilateral and bilateral) are frequently observed in fetuses and newborns, and have been commonly considered by pathologists and pediatricians to be sporadic malformations.[ojrd.biomedcentral.com]
Dysostosis
  • Q75.4 Mandibulofacial dysostosis Q75.5 Oculomandibular dysostosis Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.[icd10data.com]
  • Sporadic ,Idiopathic Multiple congenital anomalies syndrome with Mandibulofacial dysostosis and tibia hemimelia. Am J Med Genet 2005;41:330-2 14. Milliner S.[njcponline.com]
Surgical Procedure
  • The clear benefit of this approach, however, is that no prosthetics are needed and at the conclusion of surgical procedures the patient will not be biologically or anatomically different from a person born without PFFD. [ citation needed ] References[en.wikipedia.org]
Failure to Thrive
  • Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com]
Fracture
  • Coverage of each body region includes normal developmental anatomy, fractures, deformities, dislocations, infections, hematologic disorders, and more.[books.google.com]
  • Radiographic technique for the upper extremities 461 353 Congenital deformities of the upper extremities 464 354 Dislocations of the shoulder 480 355 Growth disturbances of the upper extremities 484 356 Neuromuscular disorders of the upper extremity 485 357 Fractures[books.google.com]
  • See how to proceed better than ever before with 45 surgical videos demonstrating hip revision, patellar tendon allograft preparation, open reduction internal fixation clavicle fracture, total shoulder arthroplasty, total elbow arthroplasty, and more -[books.google.com]
  • AD Nonlethal Type II Poor ossification of skull Blue sclera Micromelia with fractures and campomelia Narrow thorax with or without rib fractures Platyspondyly Generalized demineralization Hydrops AD Lethal Type III Poor ossification of skull Sclera may[perinatology.com]
  • 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]
Skeletal Dysplasia
  • dysplasias 653 463 Dysostoses localized hereditary skeletal deformities 686 464 Chromosomal abnormalities 688 465 Syndromes with neuromuscular abnormalities 691 466 Various syndromes with orthopaedic relevance 697 47 Neuroorthopaedics 711 472 Braces[books.google.com]
  • Readout - What to think about when the femur seems too short Take Home Points FILLY'S RULE FOR DIAGNOSING SKELETAL DYSPLASIAS Never diagnose a skeletal dysplasia if the bones visually look normal to you![myminifellowship.com]
  • Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth CONSIDERATIONS A primary objective in the evaluation of skeletal dysplasias is to determine lethal from non lethal dysplasias[perinatology.com]
  • Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling. Am J Med Genet. 2003;117A:203-06. Iohom G, Lyons B, Casey W.[rarediseases.org]
  • In this case, our patient also presented dysplasia of the right hip (skeletal dysplasia), which likewise suggested damage to the paraaxil mesoderm.[ojrd.biomedcentral.com]
Knee Pain
  • 3313 Knee contractures 361 3314 Differential diagnosis of knee pain 364 3315 Indications for imaging procedures for the knee 365 34 Foot and ankle 366 342 Radiographic techniques for the foot and ankle 372 343 Congenital clubfoot 374 345 Other congenital[books.google.com]
  • In 2006, Monllau et al 7 reported the first case of bilateral medial meniscal hypoplasia in a woman with long-term knee pain.[healio.com]
  • pain [ 15 , 29 , 51 ].[hindawi.com]
Hip Pain
  • Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hip pain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices[books.google.com]
Arthritis
  • 557 423 The limping child 568 431 Osteomyelitis 570 432 Septic suppurative arthritis 578 44 Juvenile rheumatoid arthritis 581 45 Tumors 585 452 Benign bone tumors and tumorlike lesions 595 453 Malignant bone tumors 611 454 Soft tissue tumors 622 455 Therapeutic[books.google.com]
  • Maintenance of the integrity of the articular cartilage is critical to preventing the development of post-traumatic or degenerative arthritis.[appliedradiology.com]
Suggestibility
  • Access full-color images and 65 online-only topics at Expert Consult, as well as online-only contents including EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms.[books.google.com]
  • Among these genetic factors, we suggest the possible involvement of the two copy number variants reported here. Reports of other patients would be required to confirm this.[orbi.ulg.ac.be]
  • […] inheritance suggests TSH receptor mutation Thyroid dysgenesis combined with kidney anomalies, or isolated thyroid hypoplasia / apparent athyreosis with a family history and dominant inheritance points to PAX8 mutation Associated cleft palate and spiky[pathologyoutlines.com]
  • All these data suggest a wide genetic heterogeneity for MRKH syndrome.[ojrd.biomedcentral.com]
  • Johnson et al. (1983) suggested multifactorial inheritance and noted some phenotypic similarity of FH/UFS to caudal regression.[omim.org]

Workup

  • Endocrine workup noted hyperandrogenism due to both ovarian and adrenal androgen overproduction.[orbi.ulg.ac.be]
  • Hematologic workup also discovered a factor V Leiden mutation, further predisposing the patient to DVT.[dovepress.com]
  • […] athyreosis should be differentiated from severe hypoplasia and ectopic thyroid either clinically (by scintiscan) or postmortem Thyroid dysgenesis is often being a part of complex syndrome with extrathyroid comorbidities, which needs further diagnostic workup[pathologyoutlines.com]

Treatment

  • 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]
  • Septic suppurative arthritis 578 44 Juvenile rheumatoid arthritis 581 45 Tumors 585 452 Benign bone tumors and tumorlike lesions 595 453 Malignant bone tumors 611 454 Soft tissue tumors 622 455 Therapeutic strategies for bone and soft tissue tumors 631 Treatment[books.google.com]
  • Treatment Goals of treatment of PFFD  To compensate for the functional deficits  No single treatment approach applies to all cases  Each person with PFFD must be assessed individually  Cosmetic is much less of an issue 24.[slideshare.net]
  • The main goal of treatment is to maximize function and mobility.[rarediseases.info.nih.gov]
  • You can help by adding to it . ( October 2017 ) Treatment [ edit ] Depending on the severity of the deformities, the treatment may include the amputation of the foot or part of the leg, lengthening of the femur, extension prosthesis, or custom shoe lifts[en.wikipedia.org]

Prognosis

  • […] the upper extremity 485 357 Fractures of the upper extremities 494 358 Tumors of the upper extremities 522 41 Traumatology basic principles 532 413 Diagnosis 533 414 Special injuries 536 415 Therapeutic principles 540 416 Followup management 543 418 Prognosis[books.google.com]
  • Prognosis Because postaxial hypoplasia of the lower extremity represents such a wide range of abnormalities with varying degrees of involvement, no simple statement can be made regarding the patient's prognosis.[emedicine.medscape.com]
  • 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]
  • […] and adductor tenotomy did not decrease the incidence of AVN Abduction into the frog position was the incriminating factor, causing compression of vessels of the trochanteric anastomosis and retinacular vessels Long term growth defect occurred in 0.7% Prognosis[orthopaedicsone.com]
  • A long term survivor to the age of 32 years has been reported in a patient with LSCA in whom vertebral agenesis began above T12. 6 The prognosis of LSCA depends upon the stability of the spinopelvic junction, neurologic deficiency and lower limb function[nature.com]

Etiology

  • In addition, these findings were correlated with the different etiologic subtypes. METHODS: A total of 180 children with PWS followed for 13 years were included in this study.[pediatrics.aappublications.org]
  • ETIOLOGY The etiology of PFFD is not known exactly Two Theories: Sclerotome Subtraction Theory- “Injury to neural crest cells”. Boden’s Theory- “A defect in proliferation and maturation of chondrocytes in the proximal growth plate”. 5.[slideshare.net]
  • The etiology of this disorder is uncertain. When severe, the proximal femur, femoral head and neck, and acetabulum will be absent.[radiopaedia.org]
  • The etiology is reflux in incompetent dilated ovarian and uterine veins.[ispub.com]
  • Etiology of this syndrome remains currently unknown. Most of the cases are sporadic. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise suggested autosomal dominant inheritance.[orbi.ulg.ac.be]

Epidemiology

  • Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology[prolekare.cz]
  • 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]
  • Limb amputation and limb deficiency: epidemiology and recent trends in the US. South Med J. 2002;95:875-883. Canfield MA, Honein MA, Yuskiv N, et al.[now.aapmr.org]
  • […] dysgenesis (dysthyroidosis, thyroid dysgenetic disorder) is a collective term for various anomalies in the anatomic development of the thyroid, including thyroid gland proper abnormalities (agenesis, hemiagenesis and hypoplasia) and ectopic thyroid tissue Epidemiology[pathologyoutlines.com]
  • Epidemiology Postaxial hypoplasia of the lower extremity is rare and has variable expression, ranging from mild deformity (which the patient may never notice) to severe deformity.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology of Hip Dysplasia To understand the pathophysiology of hip dysplasia it is helpful to have a look into the basic aspects of acetabular and femoral development as outlined in Chapter 5 .[musculoskeletalkey.com]
  • 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]
  • […] show absence of the left lobe with a left:right ratio of 4:1 ( J Clin Endocrinol Metab 1981;52:247 ) Thyroid hemiagenesis has several variations: absent lobe, absent lobe and isthmus, absent isthmus, absent both lateral lobes with remaining isthmus Pathophysiology[pathologyoutlines.com]
  • PubMed Google Scholar Glick PL, Siebert JR, Benjamin DR: Pathophysiology of congenital diaphragmatic hernia: I.[ojrd.biomedcentral.com]
  • However, more research must be conducted to determine the exact pathophysiological mechanism of action. In those patients found to have an IVC anomaly, clinicians must also evaluate patients for renal hypoplasia or horseshoe kidney.[dovepress.com]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study. Occup Environ Med. 2012;69:534-542. Herring JA, Birch JG, eds. The Child With a Limb Deficiency . 1st ed.[now.aapmr.org]
  • - Treatment: - centralization of fibula (unpredictable) - patients w/ a functional knee joint and quadriceps mechanism may function best with a Syme or BKA amputation (see pediatric amputations ); - consider synostosis of the tibia to the fibula to prevent[wheelessonline.com]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • In the past two decades, special attention was Biologic aspects of ADHD and conduct disorders in childhood and adolescence, selected preventive aspects Next to environmental factors and problems with interpersonal The contemporary view of the cardiac[prolekare.cz]

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