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Anesth Essays Res 2021 Oct-Dec;15(4):454-456. Epub 2022 Mar 1.

Department of General Medicine, S P S Apollo Hospital, Ludhiana, Punjab, India.

MURCS syndrome is a more severe form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal agenesis/ectopia (R), and cervical somite dysplasia (CS). A common presentation is primary amenorrhea in adolescent females. An anesthetist must consider the benefits and limitations of both regional and general anesthesia for these patients based on site of surgery and severity of malformations. Read More

J Stroke Cerebrovasc Dis 2022 May 25;31(5):106399. Epub 2022 Feb 25.

Department of Neurology, Tohoku Medical and Pharmaceutical University Hospital, 1-15-1 Fukumuro, Miyagino-ku, Sendai, Miyagi, 983-8536, Japan.

Objectives: To describe the case of an ischemic stroke patient with Klippel-Feil syndrome who developed multiple aneurysms and discuss the mechanism of aneurysm development.

Materials And Methods: A 44-year-old man presented with dizziness, left hemiparesis, and left-sided numbness and was admitted to our department. He developed multiple aneurysms at the bilateral vertebral artery (VA) and bilateral internal carotid artery. Read More

JBJS Rev 2022 02 15;10(2). Epub 2022 Feb 15.

School of Medicine and Dentistry, University of Rochester, Rochester, New York.

»: Klippel-Feil syndrome (KFS) is a rare multisystem constellation of findings with congenital cervical fusion as the hallmark. The etiology is not fully understood.

»: Recent studies have indicated that KFS is more prevalent than previously described. Read More

BMC Musculoskelet Disord 2022 Feb 7;23(1):123. Epub 2022 Feb 7.

Department of Orthopedics, |Orthopedic Research Institute, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang, Chengdu, 610041, Sichuan, China.

Background: Improper occipitocervical alignment after occipitocervical fusion (OCF) may lead to devastating complications, such as dysphagia and/or dyspnea. The occipital to C2 angle (O-C2a), occipital and external acoustic meatus to axis angle (O-EAa) have been used to evaluate occipitospinal alignment. However, it may be difficult to identify the inferior endplate of the C2 vertebra in patients with C2-3 Klippel-Feil syndrome (KFS). Read More

AME Case Rep 2022 25;6. Epub 2022 Jan 25.

Department of Surgery, Division of Neurosurgery, University of Toronto, Toronto, Canada.

Computer-assistance for pedicle screw insertion is becoming increasingly common. As in the case presented below, image guided neuronavigation can be used to improve the accuracy and safety of subaxial cervical pedicle screw placement, given their increased difficulty of cannulation relative to the larger pedicles in the thoracolumbar spine. A 49-year-old man presented with a traumatic sagittal split fracture of C4 (AO Classification type A4) and a left lateral mass fracture of C5 (AO Classification type F1) with anterior depression and 50% height loss. Read More

J Clin Orthop Trauma 2022 Feb 14;25:101770. Epub 2022 Jan 14.

Department of Orthopaedic Surgery, Nemours/Alfred I. DuPont Hospital for Children, 1600 Rockland Rd., Wilmington, DE, 19803, USA.

Background: Treatment of congenital and habitual dislocation of the patella in syndromic adolescents can be difficult due to accompanying soft-tissue and/or osseous abnormalities often present in the knee. The aim of this study was to report the results of surgical treatment of congenital and habitual patellar dislocation with medial patellofemoral ligament (MPFL) reconstruction and tibial tubercle osteotomy (TTO) in adolescents with an underlying syndrome.

Methods: Syndromic adolescent patients with congenital or habitual patellar dislocation treated with MPFL reconstruction and TTO between 2005 and 2019 with a minimum of one year of follow-up were identified. Read More

Spinal Cord Ser Cases 2022 01 14;8(1). Epub 2022 Jan 14.

Department of Orthopedic Surgery, Mayo Clinic, Rochester, MN, USA.

Introduction: Klippel-Feil Syndrome is the congenital fusion of at least two cervical vertebrae. Often asymptomatic, though in rare cases it may lead to severe cervical spine deformity and neurologic injury.

Case Presentation: We report a case of a 48-year-old woman with a history of Klippel-Feil Syndrome and congenital scoliosis who developed progressive cervical myelopathy. Read More

Neurosurg Rev 2022 Jan 13. Epub 2022 Jan 13.

Department of Neurosurgery, the First Medical Center, Chinese PLA General Hospital, Haidian District, 28 Fuxing Road, Beijing, 100853, China.

In Klippel-Feil patients with atlantoaxial dislocation, narrow C2 pedicles are often encountered preventing pedicle screw placement. Alternative techniques, including translaminar screws, pars screws, and inferior process screws could not achieve 3-column rigid fixation, and have shown inferior biomechanical stability. The present study aimed to evaluate the feasibility, safety, and efficacy of C3 pedicle screws (C3PSs) as an option for atlantoaxial stabilization in Klippel-Feil patients, and to introduce a freehand technique, the "medial sliding technique," for safe and accurate C3PS insertion. Read More

Cureus 2021 Oct 24;13(10):e19013. Epub 2021 Oct 24.

Neurosurgery, Tulane University School of Medicine, New Orleans, USA.

Congenital vertebral synostosis (CVS) is a rare developmental condition due to failure of vertebral segmentation. Vertebrae and their intervertebral discs differentiate and resegment at the time of organogenesis during fetal life. Failure of this embryological process can result in the limitation of mobility of the involved segment. Read More

Childs Nerv Syst 2022 02 22;38(2):361-377. Epub 2021 Nov 22.

Department of Neurosurgery, Rush University Medical Center, Chicago, IL, USA.

Objective: Cervical kyphosis is rare in the pediatric population. It may be syndromic or acquired secondary to laminectomy, neoplasia, or trauma. Regardless, this should be avoided to prevent progressive spinal deformity and neurological deficit. Read More

Cureus 2021 Oct 16;13(10):e18812. Epub 2021 Oct 16.

Physical and Rehabilitation Medicine, Hospital Garcia de Orta, Almada, PRT.

Congenital deformities of the spine are a consequence of anomalous vertebral development in the embryo and may be identified at birth or remain unnoticed until adulthood. Minor bony malformations of all types occur in up to 12% of the general population and are usually not apparent. In contrast, congenital spinal malformations that result in progressive spinal deformity are relatively rare. Read More

Genes (Basel) 2021 08 29;12(9). Epub 2021 Aug 29.

Ingham Institute, School of Psychiatry, University of NSW, Sydney, NSW 2170, Australia.

Multiple synostoses syndrome type 4 (SYNS4; MIM 617898) is an autosomal dominant disorder characterized by carpal-tarsal coalition and otosclerosis-associated hearing loss. SYSN4 has been associated with GDF6 gain-of-function mutations. Here we report a five-generation SYNS4 family with a reduction in expression resulting from a chromosomal breakpoint 3' of . Read More

Clin Neurol Neurosurg 2021 10 3;209:106934. Epub 2021 Sep 3.

Department of Neurosurgery, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming Chiao-Tung University, Taipei, Taiwan. Electronic address:

Objective: Klippel-Feil syndrome (KFS) is a congenital musculoskeletal condition characterized by improper segmentation of the cervical spine. This study aimed to evaluate outcomes of KFS patients who underwent cervical disc arthroplasty (CDA).

Methods: Consecutive patients who underwent anterior cervical surgery were retrospectively reviewed. Read More

Plast Reconstr Surg Glob Open 2021 Aug 23;9(8):e3760. Epub 2021 Aug 23.

Department of Plastic and Reconstructive Surgery, Dokkyo Medical University Hospital, Tochigi, Japan.

Nontraumatic atlantoaxial rotatory fixation after microtia reconstruction surgery is a rare complication. Intraoperative cervical hyperextension and/or excessive rotation and postoperative inflammation have been reported as causes of atlantoaxial rotatory fixation. We herein describe cases of atlantoaxial rotatory fixation after microtia reconstruction surgery. Read More

J Am Acad Orthop Surg 2021 Nov;29(22):951-960

From the Department of Orthopedic Surgery, NYU Langone Orthopedic Hospital, NYU Langone Health, New York, NY.

Klippel-Feil syndrome (KFS), or congenital fusion of the cervical vertebrae, has been thought to be an extremely rare diagnosis. However, recent literature suggests an increased prevalence, with a high proportion of asymptomatic individuals. Occurring as a sporadic mutation or associated with several genes, the pathogenesis involves failure of cervical somite segmentation and differentiation during embryogenesis. Read More

Am J Med Genet A 2021 12 19;185(12):3909-3915. Epub 2021 Jul 19.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

Elsahy-Waters syndrome (EWS; OMIM#211380) is a rare autosomal recessive disorder that is caused by loss-of-function variants in CDH11, which encodes cadherin 11. EWS is characterized by brachycephaly, midface hypoplasia, characteristic craniofacial morphology, cervical fusion, cutaneous syndactyly in 2-3 digits, genitourinary anomalies, and intellectual disability. To the best of our knowledge, there have been only six patients of molecularly confirmed EWS. Read More

Neuropediatrics 2021 12 7;52(6):506-508. Epub 2021 Jul 7.

Department of Neurology and Psychiatry, Ain Shams University, Cairo, Egypt.

J Clin Anesth 2021 11 1;74:110431. Epub 2021 Jul 1.

Department of Anesthesiology & Perioperative Medicine, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd MC UHS2, Portland, OR 97239, USA. Electronic address:

AANA J 2021 Jun;89(3):195-199

is a senior resident, Department of Anesthesiology, Pain Medicine and Critical Care, All India Institute of Medical Sciences.

Klippel-Feil syndrome (KFS) is a rare congenital anomaly that is characterized by short neck, low posterior hairline, and restricted neck movements, all of which lead to the possibility of a difficult airway. These patients often have associated multiple systemic anomalies, which add to the challenges in anesthetic management. We describe the anesthetic management of 3 patients with KFS: 2 who underwent modified radical mastoidectomy and 1 patient who underwent vaginoplasty at our institute. Read More

World Neurosurg 2021 07 20;151:201-208. Epub 2021 May 20.

Division of Neurosurgery, Faculty of Medicine of the Holy House of Mercy of São Paulo, São Paulo, Brazil.

Atlas assimilation (AA) may be associated with atlantoaxial dislocation, Chiari malformation (CM), and basilar invagination. The importance of AA in the context of craniocervical junction (CVJ) anomalies is unclear. Considering this context, this study's objective is to discuss the role of AA in the management of CVJ anomalies, especially in CM. Read More

Mol Genet Genomic Med 2021 07 20;9(7):e1710. Epub 2021 May 20.

Department of Ultrasound Diagnosis, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.

Background: Neural tube defect (NTD) is a common birth defect causing much death in the world. Variants in VANGL1 lead to NTD and caudal regression syndrome. NTD displays a complex phenotype encompassing both genetic and environmental factors. Read More

J Small Anim Pract 2021 09 18;62(9):825. Epub 2021 May 18.

Christchurch Veterinary Referrals, Tuddenham Road Business Park, Tuddenham Road, Ipswich, Suffolk, IP4 3QN, UK.

BMJ Case Rep 2021 May 12;14(5). Epub 2021 May 12.

Department of Neuroscience - Neurosurgery, Salmaniya Medical Complex, Manama, Bahrain.

Klippel-Feil syndrome (KFS) is a rare congenital anomaly in forming the cervical vertebrae resulting in the fusion of two or more of the vertebrae. KFS is associated with many congenital anomalies, some of which are common and well known. Here, we report a child with an extremely rare association of KFS with situs inversus totalis (SIT). Read More

Int J Paleopathol 2021 06 7;33:188-195. Epub 2021 May 7.

Archaeological Institute of the Slovak Academy of Sciences, Akademická 2, 949 21 Nitra, Slovakia. Electronic address:

Objective: This study analyzes two probable cases of Klippel-Feil syndrome (KFS) from the region of modern Slovakia and provides an overview of possible cases reported in 'grey' literature.

Materials: Two adult skeletons with probable KFS from Vráble-Veľké Lehemby and Radoľa-Koscelisko.

Methods: Macroscopic analysis was performed using standard osteological methods. Read More

BMC Anesthesiol 2021 04 19;21(1):121. Epub 2021 Apr 19.

Department of Anesthesiology, Peking University Third Hospital, 49 North Garden Rd., Haidian District, Beijing, China.

Background: Orthopedic surgery for cervical torticollis poses potential threat to airway management both in tracheal intubation and extubation. Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies. The anatomical characteristics of KFS might have significant implications for airway management. Read More

Med J Armed Forces India 2021 Apr 12;77(2):237-240. Epub 2019 Jul 12.

Classified Specialist (Surgery & Pediatric Surgery), Command Hospital (Southern Command), Pune 411040, India.

An 11-year-old female patient presented with congenital spinal deformity with a history of occasional pain in the right flank for a duration of six months. On evaluation, she was diagnosed to be a case of type III Klippel Feil syndrome (KFS) with crossed fused renal ectopia (left to right) and pelviureteric junction obstruction (PUJO) of the right moiety. The patient underwent successful pyeloplasty of the right moeity. Read More

J Craniovertebr Junction Spine 2021 Jan-Mar;12(1):95-98. Epub 2021 Mar 4.

Department of Neurosurgery, K.E.M. Hospital and Seth G.S. Medical College, Mumbai, Maharashtra, India.

We present a report of two patients having the association of omovertebra, Sprengel's deformity of the shoulder and Klippel-Feil abnormality with craniovertebral junctional instability. Our literature survey did not locate any report of such association. Significance of bone alterations is analyzed. Read More

Cureus 2021 Mar 5;13(3):e13719. Epub 2021 Mar 5.

Neurological Surgery, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, USA.

Klippel-Feil syndrome (KFS) is characterized by failed segmentation of the cervical spine leading to inappropriately fused vertebral bodies. A 64-year-old male with a previous L5-S1 decompression presented with significant neck pain with radiation into the entire right upper extremity and hand. Imaging demonstrated fusion of the vertebral bodies at C2-3, C4-6, and C7-T1 with associated disc bulges at C3-4 and C6-7. Read More

Clin Imaging 2021 Oct 11;78:45-50. Epub 2021 Mar 11.

Dept. of Radiology, Phoenix Children's Hospital, 1919 E. Thomas Rd., Phoenix, AZ 85016, United States of America; Professor of Child Health and Radiology, University of Arizona College of Medicine - Phoenix, 475 N. 5th St., Phoenix, AZ 85004, United States of America; Professor of Radiology, Mayo Clinic, 5777 E. Mayo Blvd., Phoenix, AZ 85054, United States of America. Electronic address:

We present a case of Klippel-Feil Syndrome, a congenital skeletal defect where multiple cervical vertebral bodies are fused. Klippel-Feil Syndrome has multiple associated anomalies, with a notable one being Sprengel's deformity. In this case, the patient was given a diagnosis of Klippel-Feil Syndrome prenatally after suspected cervical vertebrae fusion and Sprengel's deformity were seen on both fetal magnetic resonance imaging (MRI) and ultrasound. Read More

BMJ Case Rep 2021 Mar 18;14(3). Epub 2021 Mar 18.

Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Klippel-Feil syndrome is an entity presenting with short neck, low hairline and reduced range of motion of cervical spine. Neurenteric cyst is a congenital abnormality, in which mucus-secreting epithelium of the gastrointestinal tract is seen in the spinal axis. The association of a neurenteric cyst with Klippel-Feil syndrome has been reported very rarely. Read More