[…] initial presentation was with spastic quadriparesis. [jnnp.bmj.com]

It can co-present with fetal alcohol syndrome, Goldenhar syndrome, as well as Sprengel deformity[1]. [physio-pedia.com]

By definition, Klippel-Feil is a heterogeneous presentation. [ncbi.nlm.nih.gov]

We present a 48-year-old man, with lumbar pain of 15 years of prickling type evolution, sometimes of electric shock type, which after pain increased pain and presented paresthesias in the left pelvic limb, without evidence of motor deficit, sensory or [medigraphic.com]

• Atrial Septal Defect

  In the region of fosa ovale restrictive secundum atrial septal defect was presented with a predominantly right-to-left shunt. [heighpubs.org]

  Our patient had a history of the corrected atrial septal defect, and an incidentally detected right ectopic kidney. [mjdrdypu.org]

  septal defect, coronary sinus type Atrial septal defect, ostium secundum type Ataxia - Genetic diagnosis - Unknown Ataxia - oculomotor apraxia type 1 Ataxia - Other Ataxia - pancytopenia Ataxia with vitamin E deficiency Ataxia-telangiectasia Atrial tachyarrhythmia [sanfordresearch.org]

  Several investigations were ordered for the baby including a chromosomal analysis which was normal, cardiovascular imaging which showed atrial septal defect with small patent ductus arteriousus, and Renal and abdominal ultrasound which were unremarkable [panafrican-med-journal.com]

  defect (most common), atrial septal defect, coarctation, anomalous pulmonary veins Genitourinary (60%): renal and ureteral agenesis, hydronephrosis, absent/malrotated kidneys, absent vagina, ovaries, uterus, absent/hypoplastic testes Synkinesis/mirror [now.aapmr.org]

• Pneumonia

  This patient hadkyphoscoliosis and restrictive lung disease with a history of chronic chest infection, and was admitted to the hospital with left lower lobe pneumonia. [academic.oup.com]

• Blurred Vision

  vision Headache -Vertebral artery involvement Rare Syncope, Seizures, Ataxia - Clinical Findings: - low posterior hairline; - short neck; - limited neck range of motion (esp lateral side bending); - scoliosis: 60% with curve >15° Congenital or compensatory [wheelessonline.com]

  CMI patients exhibit a wide range of neurologic symptoms, including headaches, dizziness, difficulty sleeping, numbness/tingling of an upper extremity, fatigue, nausea, shortness of breath, blurred vision, among others [5]. [journals.plos.org]

• Torticollis

  […] morphology ; Abnormal sacrum morphology ; Abnormal vertebral segmentation and fusion ; Abnormality of the ribs ; Abnormality of the shoulder ; Anal atresia ; Cervical C2/C3 vertebral fusion ; Cleft palate ; Cognitive impairment ; Congenital muscular torticollis [mousephenotype.org]

  Range of motion should be increased in cases of torticollis and Sprengel's deformity. Scoliosis strengthening/stretching techniques (see here) and breathing exercises. A home exercise program.[6] KFS cannot be resolved with physical therapy. [physio-pedia.com]

  - diff dx: - juvenile rheumatoid arthritis; - rheumatoid spondylitis; - Clinical Presentation: -Often incidental finding -Anomalies present at birth -Diagnosed at later age -Presentation: Abnormal head position Torticollis Restricted Cervical ROM Patients [wheelessonline.com]

  […] span Presentation Symptoms stiff neck Physical exam inspection classic triad (seen in fewer than 50%) low posterior hairline short webbed neck limited cervical ROM other findings high scapula (Sprengel Deformity) jaw anomalies partial loss of hearing torticollis [orthobullets.com]

  Range of motion should be addressed in cases of torticollis and Sprengel deformity. Breathing exercises are recommended for patients with scoliosis.17 Occupational therapy is recommended for synkinesia. [now.aapmr.org]

• Osteophyte

  The osteophytes result in severe central canal stenosis and cord compression (arrow). [radsource.us]

  It is likely that the superior joint undergoes degenerative changes with formation of osteophytes. [physio-pedia.com]

  A high-speed pneumatic drill was used to drill down the uncovertebral joints and posterior osteophyte. Kerrison punches assisted in decompression of the dura and complete removal of the posterior osteophyte. [cnjournal.biomedcentral.com]

  […] symptoms may be greatest between Samartzis types III and II.5 As patients age, degenerative changes throughout the cervical spine can account for the following conditions5: Spinal canal stenosis Fracture Spondylosis Disk degeneration Disk herniation Osteophytes [now.aapmr.org]

• Tremor

  He is current or past member of numerous scientific and medical advisory boards of national foundations including the Worldwide Education and Awareness for Movement Disorders (WE MOVE), Dystonia Medical Research Foundation, International Tremor Foundation [books.google.com]

  E - beta-thalassemia Hereditary cerebral cavernous malformation Hereditary chronic pancreatitis Hereditary coproporphyria Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary episodic ataxia Hereditary essential tremor [sanfordresearch.org]

  DISSINERGIA CEREBELLARE MIOCLONICA DI HUNT ATROFIA SPINODENTATA ATASSIA PERIODICA ATASSIA VESTIBULOCEREBELLARE MARINESCO-SJÖGREN, SINDROME DI ATASSIA FRIEDREICH-LIKE DEFICIENZA FAMILIARE DI VITAMINA E ATASSIA-TELEANGECTASIA LOUIS-BAR, SINDROME DI SINDROME CON TREMORE [retemalattierare.it]

The patient suffered no hearing impairment and no congenital cardiac or genitourinary defects upon further workup. [hindawi.com]

Diagnosis of Klippel–Feil syndrome is through imaging, and an extensive workup should be sought to identify different abnormalities once this syndrome is suspected. [mjdrdypu.org]

[…] syndrome.[1] Differential Diagnosis[edit | edit source] Healing osteomyelitis or discitis Previous fusion without instrumentation Juvenile idiopathic arthritis Juvenile rheumatoid arthritis can present with similar cervical spine anomalies, but a thorough workup [physio-pedia.com]

[…] devices where necessary.[32] Differential Diagnosis Healing osteomyelitis or discitis Previous fusion without instrumentation Juvenile idiopathic arthritis Juvenile rheumatoid arthritis can present with similar cervical spine anomalies, but a thorough workup [ncbi.nlm.nih.gov]

[…] pain Treatment for stenosis Genetic counselling If there are treatment options available to you, they will be discussed in detail so that you understand what options are out there, how they could benefit you and what risks they carry. [medic8.com]

Treatment and prognosis No definitive treatment exists. Lifestyle modifications and preventive activities include avoidance of contact sports such as rugby. Neck braces and traction may provide symptomatic relief. [radiopaedia.org]

There’s no cure for KFS, and treatment consists of symptom management. Treatment plans depend on the severity of your symptoms, but these can include physical therapy, medications, or surgery. [healthline.com]

Treatment[edit | edit source] No definitive treatment exists. Lifestyle modifications and preventive activities include avoidance of contact sports eg rugby. Neck braces and traction may provide symptomatic relief[5]. [physio-pedia.com]

C-3 is most common; - familial Klippel-Feil-syndrome gene locus on the long arm of chromosome 8; - associated conditions: - consistently associated with congenital anomalies of other systems; - congenital scoliosis; - seen in 60%; - majority require treatment [wheelessonline.com]

Prognosis The prognosis for most individuals with KFS is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. [owlapps.net]

What is the prognosis? The prognosis varies according to the type of KFS and the severity of symptoms. [medic8.com]

Treatment and prognosis No definitive treatment exists. Lifestyle modifications and preventive activities include avoidance of contact sports such as rugby. Neck braces and traction may provide symptomatic relief. [radiopaedia.org]

Prognosis: The complications result from the vertebral fusion and include cord compression syndrome, cervical instability, and motility impairment. Management: Termination of pregnancy can be offered before viability. [thefetus.net]

This can lead to Radiculopathy and/or myelopathy.[7][8] Outlook[edit | edit source] The prognosis for most children with KFS is good if the condition is diagnosed early in life. [physio-pedia.com]

Klippel-Feil Syndrome: Clinical features and current understanding of etiology. Pediatrics 2004;(424):183-190 [thefetus.net]

Etiology, pathogenesis and classification KFS is both affected by genetic and environmental factors and is morphologically and etiologically heterogeneous[3,23]. [wjgnet.com]

Patients can be polysyndromic in their presentation, as well.[1] Image 1: X-ray showing fused cervical vertebrae as seen in Klippel–Feil syndrome Etiology[edit | edit source] The etiology of Klippel-Feil syndrome is not well known. [physio-pedia.com]

Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;424:183-190. 17. Barbosa V, Maganzini AL, Nieberg LG. Dento-skeletal implications of Klippel-Feil syndrome: a case report. [contemporarypediatrics.com]

The etiology is presumed to involve in PAX gene family mutation defect and Notch signaling pathway. [clinicaltrials.gov]

Holt-Oram syndrome Ischiospinal dysostosis (diaphanospondylodysostosis) Jarcho-Levin syndrome Larsen syndrome Multiple synostosis syndrome Noonan syndrome Robinow syndrome Spondylocarpotarsal syndrome VATER association Wildervanck syndrome Prevalence and Epidemiology [radiologykey.com]

Epidemiology[edit | edit source] Klippel-Feil syndrome occurs in approximately 1 in 40,000 to 42,000 newborns worldwide with a slight preference for females. [physio-pedia.com]

Alaqeel, Children Hospital, King Fahad Medical City, Riyadh, Saudi Arabia Journal Journal ID (nlm-ta): Pan Afr Med J Journal ID (iso-abbrev): Pan Afr Med J Journal ID (publisher-id): PAMJ Title: The Pan African Medical Journal Publisher: The African Field Epidemiology [scienceopen.com]

Epidemiology The prevalence of KFS is unknown due to the lack of studies to determine its prevalence. It is estimated to occur 1 in 40,000 to 42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males. [owlapps.net]

Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976). 2006 Oct 01;31(21):E798-804. [PubMed: 17023841] 32. [ncbi.nlm.nih.gov]

Etiology Pathophysiology mechanism due to failure of normal segmentation or formation of cervical somites at 3-8 weeks' gestation Genetics SGM1 gene (Chr 8) Notch and Pax genes Associated conditions orthopedic conditions congenital scoliosis Sprengel's [orthobullets.com]

Etiology, Pathophysiology, and Embryology KFS is a congenital anomaly that is caused by the failure of the spine to segment properly during embryonic development. [radiologykey.com]

Its pathophysiology is multifactorial. [thoracic.org]

[…] incidence at 0.71%.[15] It is important to recognize that asymptomatic pediatric patients, who do not undergo cervical imaging and do not present with an obvious physical deformity, are likely to graduate into adulthood unaware of their condition.[16][17] Pathophysiology [ncbi.nlm.nih.gov]

A high intake of fluids is still the most powerful and certainly the most economical means of prevention of nephrolithiasis. [11]. [springermedizin.de]

Pak CY: Medical prevention of renal stone disease. Nephron. 1999, 81: 60-65. 10.1159/000046300. CAS Article PubMed Google Scholar 10. Pearle MS: Prevention of nephrolithiasis. [bmcfampract.biomedcentral.com]

Lifestyle modifications and preventive activities include avoidance of contact sports such as rugby. Neck braces and traction may provide symptomatic relief. [radiopaedia.org]

Lifestyle modifications and preventive activities include avoidance of contact sports eg rugby. Neck braces and traction may provide symptomatic relief[5]. [physio-pedia.com]

Genetic advances may help reveal the causes and assist in early diagnosis, prevention, and treatment in the future. [now.aapmr.org]