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Front Genet 2018 19;9:549. Epub 2018 Nov 19.

Department of Woman, Child and General and Specialized Surgery, University of Campania "L. Vanvitelli" Naples, Italy.

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30-40% of patients have other associated congenital anomalies; in particular, facial anomalies, such as cleft palate, are part of about 10% of the DBA clinical presentations. Pierre Robin sequence (PRS) is a heterogeneous condition, defined by the presence of the triad of glossoptosis, micrognathia and cleft palate; it occurs in 1/8500 to 1/14,000 births. Read More

Neuroimaging Clin N Am 2019 Feb 29;29(1):117-128. Epub 2018 Oct 29.

Department of Radiology, University of Chicago, Pritzker School of Medicine, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address:

There is a wide variety of congenital syndromes that can involve the temporal bone. Many of these have overlapping features due to common embryologic abnormalities, such as first and second branchial anomalies. Diagnostic imaging is often important in the workup of hearing deficits related to congenital syndromes. Read More

J Anat 2018 Dec 2;233(6):687-695. Epub 2018 Oct 2.

Australian Regenerative Medicine Institute, Monash University, Clayton, VIC, Australia.

Klippel-Feil syndrome is a congenital vertebral anomaly, which is characterised by the fusion of at least two cervical vertebrae and a clinically broad set of symptoms, including congenital scoliosis and elevated scapula (Sprengel's deformity). Klippel-Feil syndrome is associated with mutations in MEOX1. The zebrafish mutant choker (cho) carries a mutation in its orthologue, meox1. Read More

Cureus 2018 Jul 24;10(7):e3038. Epub 2018 Jul 24.

Neurosurgery, Seattle Science Foundation, Seattle, WA, USA.

Klippel-Feil syndrome is a congenital disorder characterized by the fusion of one or more cervical vertebrae leading to limitations in the rotation, extension, and flexion of the neck and possible neurological symptoms. Other abnormalities can also be found in these patients. The anatomy of the vasculature can be abnormal in these patients including variations in the course and origin of the vertebral arteries potentially leading to intra-operative complications. Read More

J Clin Anesth 2019 Feb 12;52:78-79. Epub 2018 Sep 12.

Anesthesia and Intensive Care Unit, Azienda Romagna, M.Bufalini Hospital, Viale Ghirotti 286, 47521 Cesena, Italy. Electronic address:

Arch Dis Child Educ Pract Ed 2018 Sep 3. Epub 2018 Sep 3.

Department of Paediatric Education and Simulation, Royal Belfast Hospital for Sick Children, Belfast, UK.

QUESTION 1: Which procedure may have been most appropriate to offer an initial clue to her diagnosis? Abdominal X-ray. Digital rectal examination. Perianal swab for streptococcal infection. Read More

Spine (Phila Pa 1976) 2018 Jul 19. Epub 2018 Jul 19.

Department of Neurosurgery, Lady Reading Hospital Peshawar KP, Pakistan.

Study Design: Case report.

Objectives: Since this is the first ever case of a male patient with Klippel-Feil syndrome with anterior cervical meningomyelocele and syringomyelia. All four previously reported cases were female patients. Read More

Childs Nerv Syst 2018 Jun 29. Epub 2018 Jun 29.

Department of Neurological Surgery, New York Presbyterian Hospital, Weill Cornell Medical College, New York, NY, USA.

Purpose: Occipitocervical instrumentation is infrequently required for stabilization of the axial and subaxial cervical spine in very young children. However, when it is necessary, unique surgical considerations arise in children when compared with similar procedures in adults.

Methods: The authors reviewed literature describing fusion of the occipitocervical junction (OCJ) in toddlers and share their experience with eight cases of young children (age less than or equal to 4 years) receiving occiput to axial or subaxial spine instrumentation and fixation. Read More

Radiol Case Rep 2018 Apr 22;13(2):434-436. Epub 2018 Feb 22.

Radiology, The University of Texas MD Anderson Cancer Center, 1515 Holocombe Blvd, Houston, TX 77030, USA.

Klippel-Feil syndrome is an uncommon anomaly that may be asymptomatic. Early clinical signs such as restricted neck motion or short neck can be subtle and incorrectly treated as spasms. High incidence of associated craniovertebral junction (CVJ) anomalies such as occipitalized atlas predisposes them to serious neurologic complications requiring invasive procedures and surgeries. Read More

Rev Esp Anestesiol Reanim 2018 Nov 7;65(9):537-540. Epub 2018 Jun 7.

Servicio de Anestesiología, Reanimación y Terapia del dolor, Parc de Salut Mar, Barcelona, España.

Klippel-Feil Syndrome is a disease characterised by congenital fusion of cervical vertebra, which leads to cervical limitation and instability. In these cases, the best option is the orotracheal intubation with the fibre-optic bronchoscope with the patient awake. The advantage is that cervical movements that could lead to neurological damage are minimised. Read More

Spine Deform 2018 Jul - Aug;6(4):448-453

Department of Orthopaedic Surgery, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 665, Rochester, NY 14642, USA. Electronic address:

Study Design: Cross-sectional study.

Objective: To determine the prevalence of KFS in asymptomatic patients in New York State.

Summary Of Background Data: Klippel-Feil syndrome (KFS) is characterized by congenitally fused cervical vertebrae and may not be diagnosed clinically because most patients do not have the classic triad of short neck, low posterior hairline, and decreased neck range of motion. Read More

J Clin Pediatr Dent 2018;42(5):386-390. Epub 2018 May 15.

Klippel-Feil syndrome (KFS) is classically characterized by fusion of any of the two of seven cervical vertebrae. It is identified by the presence of a triad of clinical signs including short neck, limitation of head and neck movements and low posterior hairline. Unusual bony malformations leading to facial asymmetry is the most common oral manifestation associated with KFS. Read More

J Neurosurg Spine 2018 Aug 11;29(2):135-143. Epub 2018 May 11.

NYU Hospital for Joint Diseases, New York, New York.

OBJECTIVE Most cervical fixations for atlantoaxial dislocation (AAD) are bilateral and symmetric; however, in the setting of osseous and vascular deformity at the craniovertebral junction, asymmetrical and hybrid fixations are used as "salvage" techniques. Because of the rarity of these cases, hybrid cervical fixations for AAD have not been fully explored. The aim of this study was to evaluate the clinical feasibility and outcomes of posterior hybrid cervical fixations for AAD. Read More

J Clin Neurosci 2018 Jul 3;53:247-249. Epub 2018 May 3.

Orthopaedic Department, Peking University Third Hospital, Beijing, China. Electronic address:

Klippel-Feil syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae resulting from a segmentation failure in the developing spine. According to Samartzis et al., the most commonly fused segments are found at C2/3 (74. Read More

Masui 2017 May;66(5):554-557

Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movement and low posterior hairline. It may also be associated with anomalies of the genitourinary, musculoskeletal, neurologic and cardiac systems. We experienced surgery for a case of KFS complicated with cleft palate and ankyloglossia. Read More

World Neurosurg 2018 Jul 17;115:105-109. Epub 2018 Apr 17.

LiuHuaQiao Hospital, Department of Orthopedics, Guangzhou, China.

Background: Posterior occipitocervical fusion surgery is a commonly used surgical method to treat various craniovertebral junction pathologies. Though it is an effective method, there also have been some reports about complications of occipitocervical fusion. However, there have been no reports about posterior fossa epidural hematomas after occipitocervical fusion. Read More

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec;38(3):163-168

Macedonian Academy of Science and Arts, Skopje, Republic of Macedonia.

The sixth SEE meeting on rare diseases (RDs) was held in MASA the November 10th, 2017. A block of lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS, hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic mechanisms were discussed. Read More

Korean J Anesthesiol 2018 Apr 2;71(2):163-164. Epub 2018 Apr 2.

Department of Anesthesiology, Vardaan Nursing Home & Trauma Center, Palwal, India.

World Neurosurg 2018 Jun 13;114:e532-e545. Epub 2018 Mar 13.

Russian Ilizarov Scientific Center, Kurgan, Russia.

Objective: To analyze clinical and radiologic features of pathologic atlantoaxial displacement (PAAD) in pediatric patients and to compose a treatment algorithm for anomaly-related PAAD.

Background: Criteria of different types of PAAD and treatment algorithms have been widely reported in the literature but are difficult to apply to patients with odontoid abnormalities, C2-C3 block, spina bifida C1, and children.

Methods: We evaluated results of treatment of 29 pediatric patients with PAAD caused by congenital anomalies of the craniovertebral junction (CVJ), treated in Ilizarov Center in 2009-2017, including 20 patients with atlantoaxial displacement (AAD) and 9 patients with atlantoaxial rotatory fixation. Read More

Case Rep Orthop 2018 18;2018:5796730. Epub 2018 Jan 18.

Department of Diagnostic Radiology, Florida Hospital, Orlando, FL, USA.

Introduction: Klippel-Feil syndrome (KFS) is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. It is commonly associated with scoliosis and Sprengel deformity. We present a case of KFS with commonly associated abnormalities as well as deformities that have not yet been reported in the literature. Read More

JAMA Otolaryngol Head Neck Surg 2018 Mar;144(3):238-243

Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts.

Importance: Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized.

Objective: To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date. Read More

Anesthesiology 2018 May;128(5):1007

From the Department of Anesthesiology and Perioperative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia.

Medicine (Baltimore) 2017 Nov;96(45):e8647

aDepartment of Neurology bDepartment of MRI, Harrison International Peace Hospital, Hengshui, Hebei, China.

Rationale: Patients with Klippel-Feil syndrome (KFS) are always anomaly associated with vertebrobasilar dysplasia. That may present commonly as infarction of brainstem, medulla, and cerebellum. In this article, we reported a rare case of lateral medullary infarction (LMI) with similar features of Brown Sequard syndrome caused by vertebrobasilar dysplasia and KFS, and the 2 rare conditions that are causally related. Read More

J Stroke Cerebrovasc Dis 2018 Jan 28;27(1):e15-e16. Epub 2017 Sep 28.

Department of Stroke Neurology, Kohnan Hospital, Sendai, Japan.

Background: Intrathoracic carotid bifurcation is a rare vascular anomaly, with only 8 cases reported. This vascular anomaly was recently correlated with Klippel-Feil syndrome, a rare congenital disorder involving fusion of the cervical vertebrae.

Methods: A 70-year-old deaf mute man was admitted to our department because of right hemiparesis and right sensory disturbance. Read More

Clin Case Rep 2017 08 6;5(8):1344-1347. Epub 2017 Jul 6.

Department of Neurosurgery Tohoku University Graduate School of Medicine Sendai Miyagi Japan.

A patient with Klippel-Feil syndrome presented with hydrocephalus secondary to intraventricular hemorrhage. Fusion of the cervical vertebrae may have impeded cerebrospinal fluid flow. Change in the properties of cerebrospinal fluid flow after hemorrhage may have induced noncommunicating hydrocephalus. Read More

Wiley Interdiscip Rev Dev Biol 2017 11 18;6(6). Epub 2017 Jul 18.

Department of Molecular Genetics and Microbiology, Genetics Institute University of Florida, College of Medicine, Gainesville, FL, USA.

The vertebral column consists of repeating units of ossified vertebrae that are adjoined by fibrocartilagenous intervertebral discs. These structures form from the embryonic notochord and somitic mesoderm. In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, spina bifida, and Klippel Feil syndrome. Read More

Case Rep Neurol 2017 May-Aug;9(2):143-148. Epub 2017 May 19.

The National Hospital for Neurology and Neurosurgery, London, United Kingdom.

The plantar reflex is one of most important and widely tested components of the neurological examination. We describe 3 subjects with Klippel-Feil syndrome and mirror movements where unilateral cutaneous stimulation of the foot leads to flexor plantar responses in both feet. We discuss the evidence which suggests that this "crossed flexor" plantar response reveals a transcortical pathway for the flexor plantar response. Read More

J Pediatr Neurosci 2017 Jan-Mar;12(1):51-54

Department of Neurosurgery, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India.

Neural tube defects are congenital development anomaly of the central nervous system and usually have relatively more predilection to affect at anterior and posterior neuropore embryological development sites, so usually one or two defects are commonly encountered. However, occurrence of simultaneous multiple neural tube defects is very rare, presence of constellation of five neural defects is extremely rare, and all defects add up together to produce gross neurological deficit. We present an interesting case of a 23-year-old male who presented with history of lower backache and noticed wasting and weakness of lower limbs associated with difficulty in walking for the last 2 years but had no associated sphincter disturbances. Read More

Rev Bras Anestesiol 2017 Nov - Dec;67(6):665-666. Epub 2017 May 23.

Bezmialem Vakif University, Faculty of Medicine, Department of Anesthesiology and Reanimation, Istanbul, Turkey. Electronic address:

J Obstet Gynaecol Can 2017 Aug 11;39(8):609. Epub 2017 Apr 11.

Department of Obstetrics and Gynecology, Nanaimo Regional General Hospital, Nanaimo, Canada.

Rev Bras Anestesiol 2017 Jul - Aug;67(4):439-440. Epub 2017 Apr 10.

Turgut Ozal Medicine Center, Department of Anesthesia, Malatya, Turquia.

J Dent Child (Chic) 2017 Jan;84(1):35-38

Clinical associate professor and program director, in the Department of Pediatric Dentistry, University of Florida College of Dentistry, Gainesville, Fla., USA.

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in their fusion. The clinical triad of the syndrome consists of short neck, low posterior hairline, and limited neck movement, although fewer than 50 percent of patients demonstrate all three clinical features. The short neck and its immobility and instability present a significant challenge for endotracheal intubation. Read More

Childs Nerv Syst 2017 Jul 29;33(7):1225-1227. Epub 2017 Mar 29.

Seattle Science Foundation, 550 17th Ave, James Tower, Suite 600, Seattle, WA, 98122, USA.

Introduction: Patients with Klippel-Feil syndrome can present with a myriad of symptoms and imaging findings. Herein, we present a case of Klippel-Feil syndrome that was initially misdiagnosed with syringomyelia. We review this case and discuss the imaging findings. Read More

Indian J Anaesth 2017 Feb;61(2):179-180

Department of Anaesthesiology, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

Zhonghua Zheng Xing Wai Ke Za Zhi 2017 Mar;33(2):91-6

Objective: To analyze the clinical features and diagnostic and therapeutic procedure of microtia in Klippel-Feil syndrome(KFS),and to summarize the experiences on diagnosis and treatment of this kind of rare disease to avoid misdiagnosing. .

Methods: Between May 2014 and July 2015,six patients with microtia were diagnosed with suspected cervical vertebral malformation through physical examination and X-ray. Read More

Surg Neurol Int 2017 19;8. Epub 2017 Jan 19.

Section of Neurosurgery Hospital, CMQ Premiere, Puerto Vallarta, Mexico.

Background: Acute traumatic axis fractures are common cervical spine injuries often caused by road accidents or falls. They are usually classified into three different types, namely, odontoid fractures, Hangman's fractures, and miscellaneous fractures. Congenital malformations of the craniovertebral junction (CVJ), although typically asymptomatic, may result in neural compression or instability, especially following trauma. Read More

A A Case Rep 2017 02;8(4):91

Case Rep Otolaryngol 2017 4;2017:6384586. Epub 2017 Jan 4.

Division of Rhinology, Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, CA 94305, USA.

Klippel-Feil syndrome (KFS) is associated with numerous craniofacial abnormalities but rarely with skull base tumor formation. We report an unusual and dramatic case of a symptomatic, mature skull base teratoma in an adult patient with KFS, with extension through the basisphenoid to obstruct the nasopharynx. This benign lesion was associated with midline palatal and cerebral defects, most notably pituitary and vertebrobasilar arteriolar duplications. Read More

World Neurosurg 2017 Apr 24;100:531-539. Epub 2017 Jan 24.

Krembil Research Institute, Toronto Western Hospital and University of Toronto, University Health Network, Toronto, Canada. Electronic address:

Background: Congenital fusion of cervical vertebrae, including Klippel-Feil syndrome (KFS), is a suspected risk factor for development of degenerative cervical myelopathy (DCM). We aimed to establish prevalence and degenerative patterns of congenital cervical fusion (CCF) among a global cohort of patients with DCM.

Methods: Data from 3 prospective DCM studies were merged, including clinical data for 813 patients and imaging for 592 patients. Read More

Int J Paleopathol 2016 12 21;15:69-75. Epub 2016 Aug 21.

Department of Anthropology, University of Victoria, PO Box 1700 STN CSC, Victoria, BC V8W 2Y2, Canada. Electronic address:

In the summer of 1967, a relatively complete skeleton of a juvenile was excavated from the Ishkeenickh River Cave Site (now the Ksi Hlginx River) in British Columbia, Canada, dating from approximately 2000 years ago. This individual, likely aged between 10 and 12 years at time of death, displays osteological features consistent with a chronic arthropathy. The most striking pathological changes are on the spine, with bony ankylosis present on several of the cervical and thoracic vertebrae. Read More

Arch Argent Pediatr 2016 Dec;114(6):e398-e402

Grupo Transdisciplinario de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Los Andes, Mérida, Venezuela.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding. Read More

Spine (Phila Pa 1976) 2017 Jul;42(14):1058-1067

*Division of Neurosurgery and Spine Program, University of Toronto, Toronto, Ontario, Canada †Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.

Study Design: An ambispective analysis.

Objective: The aim of this study was to report the global prevalence of specific degenerative cervical pathologies in patients with degenerative cervical myelopathy (DCM) through detailed review of magnetic resonance imaging (MRIs).

Summary Of Background Data: DCM encompasses a spectrum of age-related conditions that result in progressive spinal cord injury. Read More

Mol Genet Metab 2016 12 9;119(4):300-306. Epub 2016 Nov 9.

Department of Paediatrics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada. Electronic address:

Purpose: Proton magnetic resonance spectroscopy (MRspec), one of the very few techniques for in vivo assessment of neuro-metabolic profiles, is often complicated by lack of standard population norms and paucity of computational tools.

Methods: 7035 scans and clinical information from 4430 pediatric patients were collected from 2008 to 2014. Scans were conducted using a 1. Read More

PM R 2016 Sep 24;8(9S):S317-S318. Epub 2016 Sep 24.

Albert Einstein College of Medicine, New York, New York, United States.

Adv Anat Embryol Cell Biol 2016 ;221:1-123

Laboratory for the Study of Skeletal Disorders, Harvard Medical School, Boston, Massachusetts, USA.

Normal and abnormal vertebral development have been studied over the past 200 years at increasing levels of resolution as techniques for biological investigation have improved. Disordered development of the axial skeleton from the early embryonic period on leads to structurally malformed vertebrae and intervertebral discs and ribs causing the severe deformities of scoliosis, kyphosis, and kyphoscoliosis. Developmental malformation of the axial skeleton therefore has led to considerable biological and clinical interest. Read More

Braz J Anesthesiol 2016 Sep-Oct;66(5):551-3. Epub 2014 Apr 29.

Harran University School of Medicine, Department of Pediatric Surgery, Sanliurfa, Turkey.

Klippel-Feil syndrome (KFS) has a classical triad that includes short neck, low hair line and restriction in neck motion and is among one of the congenital causes of difficult airway. Herein, we present a 26-day, 3300g newborn with KFS who was planned to be operated for correction of an intestinal obstruction. She had features of severe KFS. Read More

J Coll Physicians Surg Pak 2016 Aug;26(8):724-5

West China Medical School, Sichuan University, Chengdu, China.

World Neurosurg 2016 Nov 25;95:46-52. Epub 2016 Jul 25.

Department of Neurosurgery, PLA General Hospital, Beijing, China. Electronic address:

Objective: To introduce and assess a surgical treatment of occipitocervical (OC) dislocation with atlas assimilation and Klippel-Feil syndrome (KFS) using occipitalized C1 lateral mass and C2 fixation and reduction technique.

Methods: From January 2007 to August 2013, 58 symptomatic patients with OC dislocation and KFS of C2-3 congenital fusion and atlas assimilation were surgically treated in our institution via this technique. After opening the C1-2 facet joints via a posterior approach, OC reduction was conducted by intraoperative manipulation and C1 lateral mass and C2 pedicle screw and rod fixation. Read More