Neglected Sprengel's deformity in an 80-year-old female cadaver: a case report.

Background: Sprengel's deformity is a congenital abnormality of the shoulder girdle. Because scapular retraction, such as the Green procedure, is usually performed during childhood to improve esthetics and shoulder function, Sprengel's deformity is rarely found in older patients.

Case Presentation: We presented a unique case of a Japanese female cadaver with Sprengel's deformity at the age of 80 years.

Klippel-Feil syndrome: Should additional examination be conducted?

Purpose: Klippel-Feil syndrome (KF) is a rare disease defined as single or multi-level cervical vertebra fusion. KF could be accompanied by other spinal anomalies or isolated, and in which case necessity of whole spine screening is not clearly known. KF is investigated in terms of prevalence, gender distribution, fusion types, and frequency of accompanying anomalies according to types of KF.

A Novel Technique for Basilar Invagination Treatment in a Patient with Klippel-Feil Syndrome: A Clinical Example and Brief Literature Review.

: To present a novel technique of treatment for a patient with basilar invagination. Basilar invagination (BI) is a congenital condition that can compress the cervicomedullary junction, leading to neurological deficits. Severe cases require surgical intervention, but there is debate over the choice of approach.

Prenatal Diagnosis and Outcomes of Cervical Meningocele and Myelomeningocele.

Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome.

Mitral Valve Regurgitation in Klippel-Feil Syndrome With Related Thoracic Deformity.

Klippel-Feil syndrome, characterized by congenital fusion of any 2 or more cervical vertebrae, is a rare disorder in which skeletal and other organ system-related abnormalities have been reported. This article reports a case of mitral valve regurgitation in a patient with Klippel-Feil syndrome and related thoracic deformity who underwent mitral valvuloplasty. Postoperatively, the mitral valve regurgitation disappeared, and there has been no recurrence for 3 years.

Occipital dermal sinus associated with infectious teratoma in an adult patient affected by Klippel-Feil syndrome: Rare case report and literature review.

Background: The Klippel-Feil syndrome (KFS) is a rare congenital anomaly characterized by the fusion of cervical vertebrae, which may be associated with other malformations, such as dermoid tumors and teratoma. Some theories explain the embryology of these associations. Another condition that may be present is the dermal sinus (DS), communication between intracranial tumors and the subcutaneous tissue, and predisposing infections.

Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.

Background: Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of two or more cervical vertebrae during early prenatal development. This fusion results from a failure of segmentation during the first trimester. Although six genes have previously been associated with KFS, they account for only a small proportion of cases.

White Cord Syndrome Following Cervical Surgery in a Patient With Klippel-Feil Syndrome: A Case Report.

White cord syndrome is a rare entity, as there are very few cases described in the current literature. Postoperative MRI examination reveals cord intrinsic changes, including edema and ischemia. It is also described as a reperfusion injury of the spinal cord.

Revealing an Uncommon Presentation of Chiari I Malformation With Diverse Craniovertebral Anomalies in the Absence of Syringomyelia and Atlanto-Occipital Subluxation: A Case Report.

A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various other craniovertebral junction abnormalities, albeit less frequently with Klippel-Feil syndrome. Interestingly, the majority of individuals with Chiari I malformation do not exhibit any symptoms.

Transient binocular vision loss and pain insensitivity in Klippel-Feil syndrome: a case report.

Background: Klippel-Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel-Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system.

Case Presentation: This case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss.

Vestibular schwannoma coexisting with dermoid cyst: A case report.

Multiple primary intracranial tumors, or the presence of two or more primary intracranial tumors, are a rare clinical occurrence. The current study presents the case of a 28-year-old patient with concurrent left vestibular schwannoma, left cerebellar hemisphere dermoid cyst and craniovertebral junction malformation, specifically basilar invagination and Klippel-Feil syndrome. The patient exhibited symptoms of torticollis and recurrent headaches, with no apparent hearing loss.

PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.

Klippel-Feil syndrome (KFS) has a genetically heterogeneous phenotype with six known genes, exhibiting both autosomal dominant and autosomal recessive inheritance patterns. PUF60 is a nucleic acid-binding protein, which is involved in a number of nuclear processes, including pre-mRNA splicing, apoptosis, and transcription regulation. Pathogenic variants in this gene have been described in Verheij syndrome due to either 8q24.

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.

Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel-Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our knowledge on molecular mechanisms of numerous VMs is still limited.

Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report.

Unlabelled: Klippel-Feil syndrome is a rare congenital bone disorder characterised by a triad of short neck, low posterior hairline and limited lateral bending of the neck with an annual incidence of 1 in 40,000 live births. It has remained an obscure term in the medical literature because of its variability in presentation and wide spectrum of anomalies involving multiple organ systems. It is unusual to find a case that has all three classical triad features.

Cervical split cord malformation (diastematomyelia) with associated Klippel-Feil deformity presenting in adulthood with bimanual synkinesis.

Background: Split cord malformation (SCM) is a rare congenital malformation of the spinal cord in which the cord is split longitudinally. Identification and diagnosis in adulthood is rare, with the majority of cases diagnosed in the paediatric population. Isolated segmental cervical SCM is rarer still.

[The multisystem deformities features of Klippel-Feil syndrome patients combined with congenital scoliosis].

To summarize the characteristics of multisystem deformities in patients with Klippel-Feil syndrome (KFS) combined with congenital scoliosis (CS). Within the framework of the "Deciphering Disorders Involving Scoliosis and Comorbidities (DISCO)" research collaboration, a retrospective analysis was conducted on patients diagnosed with KFS and CS at Peking Union Medical College Hospital between April 2005 and August 2022. Patient data, including imaging examinations and medical records, were collected to summarize the spinal and associated deformities.

Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.

Background: Klippel-Feil syndrome is a rare condition described in 1912 by Maurice Klippel and André Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short neck, low posterior hairline, and limited range of movement. However, Klippel-Feil syndrome manifests with a vast spectrum of phenotypes, ranging from no symptoms to complete triad, with or without other associated malformations.

Os odontoideum: database analysis of 260 patients regarding etiology, associated abnormalities, and literature review.

Introduction: Since the first description of os odontoideum in 1886, its origin has been debated. Numerous case series and reports show both a possible congenital origin and origin from the secondary to craniovertebral junction (CVJ) trauma. We conducted a detailed analysis of 260 surgically treated cases to document the initial symptoms, age groups, radiographic findings, and associated abnormalities, aiming to enhance the confirmation of the etiology.

Failure of Mandibular Distraction Osteogenesis in Klippel- Feil Syndrome- 4: A Case Report of a Rare Syndromic Robin Sequence.

Klippel-Feil syndrome-4 (KFS4), a rare autosomal recessive form of Klippel- Feil syndrome, is characterized by facial dysmorphism, nemaline myopathy, and short stature. Only 10 cases of KFS4 have been previously published in the literature. We report a novel case of a 1- month-old girl with known KFS4 and Robin Sequence (RS).