Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

[Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene].

Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.

Occipital encephalocele: prognostic factors of psychomotor delay and visual agnosia.

Dandy Walker malformation with occipital encephalocele - personal series and updated literature review.

Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1: First Case from Türkiye.

Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant.

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.

Chiari III malformation with ruptured encephalocele: a case report and review of literature.

Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature.

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

From Diagnosis to Discharge: Case of a Giant Occipital Encephalocele.

Dandy-Walker malformation associated with massive occipital encephalocele: A case report.

Investigating the Role of B9D1 in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review.

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.

Unforeseen Changes after Discontinuing Artificial Nutrition in a Patient with Giant Encephalocele.

Posterior vault encephaloceles: from antenatal management to post-surgical follow-up-a cooperative study.

Case report: Dandy-Walker malformation with occipital encephalocele and superadded meningitis.

A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele.

Giant encephalocele in newborns: prenatal diagnosis, management and outcome.

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.

Regression of microcephaly as a protective factor of neuropsychomotor development in fetal surgery for occipital encephalocele.

Chiari malformation type III and its viability. Case report and literature review.

Early Cranioplasty in an Apert's Syndrome Infant With Occipital Encephalocele.

Occipital encephalocele: a retrospective analysis and assessment of post-surgical neurodevelopmental outcome.

Meningothelial hamartoma of scalp mimicking encephalocele in an infant: A case report and review of literature.

Human Malformed Perinatal Anthropological Crania Contribute to New Insight in the Extension of Bone Malformations in Cranial Development.

Operation of a giant occipital encephalocele in an infant: A surgical case report.

A Female Newborn With Occipital Encephalocele and a Hypoplastic Right Ventricle Secondary to Tricuspid and Pulmonary Atresia: A Case Report.

Anaesthetic managements of 16 days' neonate with large occipital meningeoencephalocele in a resource-limited setting, Ethiopia: a clinical case report and review of literature.

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

Fetal surgery for occipital encephalocele: A case report.

Novel homozygous mutations in TXNDC15 causing Meckel syndrome.

Chiari III malformation in a neonate.

Bilateral cerebellopontine angle lipomas in an infant with encephalocele: illustrative case.

Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome.

Knobloch Syndrome - Triad of Occipital Encephalocele, Retino-Choroidal Detachment and Epilepsy.

Giant Occipital Encephalocele: A Case Report and Literature Review.

Occipital encephalocele: Presentation of case.

Meckel-Gruber syndrome together with Dandy-Walker malformation: an atypical case report of a 2nd recurrence in a consanguine marriage.

A rare case of occipital encephalocele presenting as the largest congenital head mass in an infant.

Clinical presentation and outcomes of neonates born with neural tube defects- an experience from a level III B NICU in Western India.

Homozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.

Torsion of giant occipital encephalocoele in a 2-day-old infant: emergent surgery and outcome.

Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome.

Challenging, giant occipital encephalocele in a pediatric saipanese male.

The outcome of surgical management for the patient with giant occipital encephalocele: a case illustration and systematic review.

Airway management in a child with large occipital encephalocele associated with restricted neck movements and receding mandible.

Demographic and Diagnostic Spectrum of Neurosurgical Biopsies: Initial Experience From a Re-established Neurosurgical Unit in a Tertiary Hospital in North Central Nigeria.

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

Torcular pseudomass in a 14-month-old child: illustrative case.

[Occipital encephalocele and associated anomalies including bilateral eyelid coloboma, bilateral cleft lip/cleft palate, amniotic bands on the right leg with absence of toes on right and left feet at the University Clinics of Graben Butembo 2021: a case report].

A Rare Case of Giant Occipital Encephalocele With Thoracic Myelomeningocele: An Anesthetic Conundrum.

Late-onset obstructive hydrocephalus associated with occipital encephalocele with large skull defect successfully treated by endoscopic third ventriculostomy.

Natural history of posterior fetal cephaloceles and incidence of progressive cephalocele herniation.

Giant occipital encephalocele complicated with obstructive hydrocephalus: A case report.

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.

[Knobloch syndrome: a case report].

Occipital encephalocele associated with Dandy-Walker malformation: a case-based review.

Wound Dehiscence After Occipital Encephalocele Surgical Repair in a Neonate: Management Alternative.

Intraventricular Pneumocephalus: Ruptured Occipital Encephalocele.

Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing.

Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.

Occipital Encephalocele with Multiple Birth Defects: A Case Report.

Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.

A case of prenatal diagnosis of meckel-gruber syndrome in one of the dizygotic twin of a naturally conceived pregnancy.

Chiari type III malformation: Case report and review of literature.

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.

A new phenotype of amniotic band syndrome with occipital encephalocele-like morphology: a case report.

Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.

Chiari III Malformation on Prenatal and Postnatal Imaging Complicated by Syndrome of Inappropriate Secretion of Anti-diuretic Hormone (SIADH) and Serratia marcescens Meningitis.

Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India.

Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report.

Endoscopic Third Ventriculostomy in Infants Less than One Year of Age: A Short Series of 14 Cases.

Giant Occipital Encephalocele - Challenges in Management.

Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.

Spontaneous external rupture of hydrocephalus after fontanelle closure: a case report and review of literature.

Fetal surgery for occipital encephalocele.

Two novel TCTN2 mutations cause Meckel-Gruber syndrome.

Multiple Neural Tube Defects: A Case Report.

Quadrigeminal arachnoid cyst with perinatal encephalocele.

Occipital encephalocele in a neonate: a case successfully managed by excision and formation of a reverse visor scalp flap.

Giant Occipital Encephalocele in an Infant: A Surgical Challenge.

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.

Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.

"Cable Suturing Technique" a Dural Obliteration Method for the Prevention of Cerebellar Herniation through a Large Occipital Meningocele.

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.

Do we need to scan the whole neuraxis for coexistent abnormalities in children with surgically treated occult spinal dysraphism?

An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation.

Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome.

Giant Occipital Encephalocele with Chiari Malformation Type 3.

A Brief Review of Giant Occipital Encephalocele.

Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration.

Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in Patient with Dandy-Walker Malformation.

Neurosurgical Interventions for Occipital Encephalocele.

Meckel Gruber syndrome associated with anencephaly-an unusual reported case.

A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.

The newer classifications of the chiari malformations with clarifications: An anatomical review.

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.

A Giant Occipital Encephalocele in Neonate with Spontaneous Hemorrhage into the Encephalocele Sac: Surgical Management.

Migration of ventriculoperitoneal shunt to urethral and rectal orifices.

Lipoencephalocele in a Child: An Uncommon Swelling in the Occipital Region.

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.

Giant Occipital Meningoencephalocele in a Neonate: A Therapeutic Challenge.

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Mortality in Joubert syndrome.

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Managing tracheal extubation in infants with stridor and congenital neuraxial anomalies.

[Meckel Gruber syndrome: about a rare case].

Giant Atretic Occipital Lipoencephalocele in an Adult with Bony Outgrowth.

A newborn with very rare von Voss-Cherstvoy syndrome: a case report.

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

Successful Treatment of Large Occipital Encephalocele Presenting with Bilateral Vocal Cord Paralysis: A Case Report.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus.

Prenatal detection of congenital high airway obstruction syndrome with encephalocele.

Giant Congenital Melanocytic Nevus with Occipital Encephalocele: A Very Rare Association.

Primary Occipital Encephalocele in an Elderly Patient.

Parietal and occipital encephalocele in same child: A rarest variety of double encephalocele.

MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.

Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele.

[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].

[Trapped temporal horn, an unusual form of obstructive hydrocephalus: 5 case-reports].

A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.

The Chiari 3 Malformation and a Systemic Review of the Literature.

Chiari III malformation: a comprehensive review of this enigmatic anomaly.

A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.

Identification of a novel MKS locus defined by TMEM107 mutation.

Meckel-Gruber Syndrome with unilateral renal agenesis.

A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report.