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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 May 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 Apr 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 Mar 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

J Neurol Surg B Skull Base 2021 Feb 2;82(Suppl 1):S16-S18. Epub 2020 Dec 2.

Department of Neurological Surgery, Rutgers New Jersey Medical School, Neurological Institute of New Jersey, Saint Barnabas Medical Center, Robert Wood Johnson Barnabas Health, Newark, New Jersey, United States.

Basilar invagination is a congenital or acquired craniovertebral junction abnormality where the tip of the odontoid process projects through the foramen magnum which can cause severe symptomatic compression of the brainstem and spinal cord. If left untreated, patients can develop progressive quadriparesis. Traditionally, basilar invagination can be treated with cervical traction and posterior stabilization. Read More

Ann Transl Med 2021 Feb;9(3):255

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

Background: Klippel-Feil syndrome (KFS) represents the rare and complex deformity characterized by congenital defects in the formation or segmentation of the cervical vertebrae. There is a wide gap in understanding the detailed mechanisms of KFS because of its rarity, heterogeneity, small pedigrees, and the broad spectrum of anomalies.

Methods: We recruited eight patients of Chinese Han ethnicity with KFS, five patients with congenital scoliosis (CS) who presented with congenital fusion of the thoracic or lumbar spine and without known syndrome or cervical deformity, and seven healthy controls. Read More

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2021 Feb;43(1):25-31

Department of Orthopaedics, PUMC Hospital, CANS and PUMC, Beiig 10730 China.

Objective To summarize clinical characteristics and investigate possible pathogenic gene of Klippel-Feil syndrome(KFS)by the self-designed multigene panel sequencing,so as to decipher the molecular basis for early diagnosis and targeted therapy.Methods From January 2015 to December 2018,we consecutively recruited 25 patients who were diagnosed with KFS in Peking Union Medical College Hospital.The demographic information,clinical manifestations,physical examination and radiological assessments were analyzed. Read More

Eur J Med Genet 2021 Apr 23;64(4):104179. Epub 2021 Feb 23.

Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, Nantes, France. Electronic address:

Neurosciences (Riyadh) 2021 Jan;26(1):89-92

From the Department of Neurosurgery, King Fahad Hospital, Hofuf, Al-Ahasa, Kingdom of Saudi Arabia.

Sprengel deformity is a congenital anomaly arising mainly in the shoulder girdle, associated with elevation of dysplastic scapula. skeletal anomalies, mainly Klippel-Feil syndrome, hemivertebrae, and omovertebral bone may be present along Sprengel anomaly. The omovertebral bone is an abnormal bone that originates from the superomedial edge of the scapula with different insertion points along the posterior cervical spine, seen in about third of the patients with Sprengel anomaly. Read More

Chin Neurosurg J 2021 Jan 18;7(1). Epub 2021 Jan 18.

Department of Orthopedics, Peking University Third Hospital, Beijing, 100191, China.

Background: Basilar invagination (BI) with atlantoaxial dislocation (AAD) is not uncommon in patients with scoliosis, Klippel-Feil syndrome (KFS), and other bone deformities. Cases with combinations of the abovementioned dislocations and deformities with posterior cranial fossa teratoma are rare in the clinic and difficult to handle.

Case Presentation: This case presents a 34-year-old woman diagnosed with atlantoaxial dislocation and posterior cranial fossa mass. Read More

Am J Med Genet A 2021 04 13;185(4):1242-1246. Epub 2021 Jan 13.

Professor Emeritus, Department of Pediatrics, Division of Clinical Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA.

At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic syndrome in one of them. Her major manifestations included: intrauterine growth restriction (IUGR), failure to thrive (FTT), delayed developmental milestones/intellectual disability (DDM/ID), left hemihypoplasia of her body with leg length discrepancy, left profound deafness due to inner ear malformation, telecanthus, dental anomalies mainly on the left side, congenital torticollis due to Klippel-Feil anomaly, 13 ribs, scoliosis, dislocation of the left hip, and distinctive left hand and feet. A blood karyotype at age 3 was normal. Read More

Clin Genet 2021 Apr 17;99(4):565-571. Epub 2021 Jan 17.

Department of Pediatric Neurology, University Hospital for Children and Adolescents, Leipzig, Saxony, Germany.

RIPPLY2 is an essential part of the formation of somite patterning during embryogenesis and in establishment of rostro-caudal polarity. Here, we describe three individuals from two families with compound-heterozygous variants in RIPPLY2 (NM_001009994.2): c. Read More

Hum Mol Genet 2020 12;29(22):3662-3678

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G1X3, Canada.

The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven unrelated families with a variety of overlapping congenital malformations, including cardiac, vertebral, tracheo-esophageal, renal and limb defects. WBP11 encodes a component of the spliceosome with the ability to activate pre-messenger RNA splicing. Read More

World Neurosurg 2020 12;144:315

Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, USA.

World Neurosurg 2020 12;144:314

Department of Neurosurgery, King Edward VII Memorial Hospital and Seth G.S. Medical College, Parel, Mumbai, India. Electronic address:

World Neurosurg 2021 Feb 18;146:163-165. Epub 2020 Nov 18.

Carolina Neurosurgery and Spine Associates, Charlotte, North Carolina, USA.

An adult with Sprengel deformity and Klippel-Feil syndrome associated with an omovertebral bone has rarely been reported in literature. The omovertebral bone is an abnormal cartilaginous connection between the scapula and the cervical spine. Limited cases have previously been reported in the literature describing surgical intervention when neurologic deficits such as cervical myelopathy or radiculopathy are present. Read More

Am J Med Genet A 2021 02 11;185(2):370-376. Epub 2020 Nov 11.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Klippel-Feil syndrome 4 (KFS4; MIM# 616549) is an autosomal recessive disorder caused by biallelic pathogenic variants in MYO18B and comprises, in addition to Klippel-Feil anomaly (KFA), nemaline myopathy, facial dysmorphism, and short stature. We aim to outline the natural history of KFS4 and provide an updated description of its clinical, radiological, laboratory, and molecular findings. We comprehensively analyzed the medical records of 6 Saudi and 1 American patients (including 5 previously unpublished cases) with a molecularly confirmed diagnosis of KFS4. Read More

Cell Rep 2020 11;33(5):108332

Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, TX 78229, USA; Mays Cancer Center, The University of Texas Health Science Center, San Antonio, TX 78229, USA; Department of Biochemistry and Structural Biology, The University of Texas Health Science Center, San Antonio, TX 78229, USA. Electronic address:

We report here that the autocrine signaling mediated by growth and differentiation factor 6 (GDF6), a member of the bone morphogenetic protein (BMP) family of cytokines, maintains Ewing sarcoma growth by preventing Src hyperactivation. Surprisingly, Ewing sarcoma depends on the prodomain, not the BMP domain, of GDF6. We demonstrate that the GDF6 prodomain is a ligand for CD99, a transmembrane protein that has been widely used as a marker of Ewing sarcoma. Read More

J Pediatr Orthop B 2020 Oct 29. Epub 2020 Oct 29.

Department of Paediatric Orthopaedics, Christian Medical College, Vellore, Tamil Nadu, India.

Modified Woodward's procedure improves shoulder movement and cosmesis. There is a paucity of literature reporting objective assessment of functional outcomes. We report cosmetic and functional outcomes in Sprengel's deformity treated with modified Woodward's procedure. Read More

Surg Neurol Int 2020 2;11:322. Epub 2020 Oct 2.

Department of Orthopaedics, Cedars-Sinai Medical Center, Los Angeles, California, United States.

Background: Klippel-Feil syndrome (KFS) is defined by multiple abnormal segments of the cervical spine with congenital synostosis of two or more cervical vertebrae. KFS patients who demonstrate progressive symptomatic instability and/or neurologic sequelae are traditionally managed with operative decompression and arthrodesis.

Case Description: A 44-year-old female with chronic neck pain and radiculopathy and a C7-T1 KFS presented with adjacent segment degenerative disc disease at the C5-6 and C6-7 levels. Read More

J Radiol Case Rep 2020 Aug 31;14(8):8-13. Epub 2020 Aug 31.

UT Health San Antonio, Department of Radiology, San Antonio, USA.

Intervertebral disc calcification is rare in the pediatric population and is associated with sudden neurological manifestations. Although commonly symptomatic, conservative management yields excellent prognosis in the vast majority of cases. The following case illustrates the finding of intervertebral disc calcification in a patient with vertebral body segmentation anomaly consistent with Klippel-Feil Syndrome. Read More

J Neurosurg Spine 2020 Sep 25:1-5. Epub 2020 Sep 25.

1Department of Orthopedic Surgery, St. Joseph's University Medical Center, Paterson; and.

The presence of an omovertebral bone with Sprengel's deformity and Klippel-Feil syndrome is a complex congenital anomaly that is not well understood. It most commonly manifests as cosmetic deformity, limited range of motion, and functional disability, although there are reports of the insidious development of cervical myelopathy. In this paper, the authors present the case of a 49-year-old man with acute neurological deficits after a low-energy mechanism of traumatic spinal cord compression, resulting from an impinging omovertebral bone through a traumatic laminar defect. Read More

Spine Deform 2021 Jan 4;9(1):303-309. Epub 2020 Aug 4.

Department of Orthopaedics, Bai Jerbai Wadia Hospital for Children, A. Dondhe Marg, Parel, Mumbai, 400012, India.

Purpose: Sprengel shoulder, Klippel-Feil syndrome and congenital scoliosis are associated conditions. Cervical myelopathy in a child due to a concomitant omovertebral bar causing posterior cord compression and a hypermobile cervical disc protrusion adjacent to fused cervical segments causing anterior compression at the same level is very rare. We report the presentation, findings, surgical management and results of treatment in such a child. Read More

World Neurosurg 2020 11 9;143:18-22. Epub 2020 Jul 9.

Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, USA.

Background: Patients with Klippel-Feil syndrome may present with neurologic complaints such as neck pain, radiculopathy and gait instability. Here we describe surgical management of a patient with congenital fusion of the occipital-cervical region and also block circumferential fusion of dens to T3 with spinal cord compression. This report is the first of its kind with such extensive fusion. Read More

J Clin Sleep Med 2020 10;16(10):1805-1807

Department of Sleep Medicine, Baylor College of Medicine, Houston, Texas.

None: Klippel-Feil sequence (KFS) is a rare congenital condition that presents with congenital cervical spine fusion, reduced cervical spine flexion, and low posterior hairline. Chiari malformation type 1 and sleep-disordered breathing (SDB) are frequent comorbidities of KFS. The pathologic basis of the connection between Chiari malformation type 1 and SDB in the setting of KFS is not clearly understood. Read More

Eur Heart J Case Rep 2020 Jun 24;4(3):1-4. Epub 2020 Mar 24.

Department of Cardiothoracic Surgery, Barts Heart Centre, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK.

Background: Klippel-Feil syndrome (KFS) is a rare congenital anomaly of the cervical spine, which is associated with a number of cardiovascular malformations, including coarctation of the aorta, bicuspid aortic valve (BAoV), and aortic aneurysm. Operative management of aortic stenosis of a BAoV in a patient with KFS has not been previously reported.

Case Summary: A 54-year-old Caucasian woman with known KFS presented to her local hospital for elective cholecystectomy. Read More