Search results for "Encephalocele"
showing 8 items of 8 documents
Clinical Delineation Of A Subtype Of Frontonasal Dysplasia With Creased Nasal Ridge And Upper Limb Anomalies: Report Of Six Unrelated Patients
2017
IF 2.259; International audience; Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr…
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in theOFD1gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and …
Complications in Craniovertebral Junction Instrumentation: Hardware Removal Can Be Associated with Long-Lasting Stability. Personal Experience
2017
Background The causes of craniovertebral junction (CVJ) instabilities include trauma, rheumatological diseases, tumors, infections, congenital malformations, and degenerative disease processes; these complex pathologies often require CVJ instrumentation. Hardware complications were analyzed in a personal series of 48 treated patients. In light of the analysis of very unusual radiological and clinical findings, the authors tried to better investigate the related mechanisms and to reach possible useful conclusions. Methods In a series of 48 patients who underwent CVJ instrumentation and fusion procedures in our Institution, we describe three cases of hardware failure, due to: (1) infection; (…
Temporobasal, Transsphenoidal Meningoencephalocele Becoming Symptomatic with Spontaneous Cerebrospinal Fluid Rhinorrhea: Diagnostic Work-up and Micro…
2012
Background We report the rare case of an adult transsphenoidal meningoencephalocele and outline the microneurosurgical strategy. Clinical history, the findings of computerized tomography (CT) scans and magnetic resonance imaging (MRI), the microsurgical procedure, and histopathology are reported. Case Report A 54-year-old female patient complained about cerebrospinal fluid (CSF) rhinorrhea; a transnasal biopsy of a mass in the maxillar sinus prior to diagnostic work-up was performed elsewhere. Persisting CSF leakage prompted CT and MRI, which showed brain tissue extending from the left middle cranial fossa into the left sphenoid sinus through several bony defects. The diagnosis of a trans…
A sphenoorbital encephalocele — clinical, radiological, and morphological findings
1988
We report here on congenital sphenoorbital encephalocele which could not be disclosed by computed tomography including contrast medium application or by orbital sonography. Surgery and histological examination were necessary to establish correct the diagnosis.
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
2011
Mutations in genes encoding ciliary components cause ciliopathies, but how many of these mutations disrupt ciliary function is unclear. We investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential for ciliogenesis in some, but not all, tissues. Cell types that do not require Tctn1 for ciliogenesis require it to localize select membrane-associated proteins to the cilium, including Arl13b, AC3, Smoothened and Pkd2. Tctn1 forms a complex with multiple ciliopathy proteins associated with Meckel (MKS) and Joubert (JBTS) syndromes, including Mks1, Tmem216, Tmem67, Cep290, B9d1, Tctn2, and Cc2d2a. Components of the Tectonic ciliopathy complex colocaliz…
Oral findings in Midline Syndrome: a case report and literature review
2010
We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital con…
Spontaneous Resorption of an Occipital Meningocele: Computed Tomography and Magnetic Resonance Imaging Evaluation
2016
Cranial meningocele is a very rare variant of encephalocele. Meningocele can be associated with other disorders and may cause complications. Therapy is usually based on surgical treatment. To our knowledge, we describe the first case of spontaneous resorption of an occipital meningocele in a full-term newborn boy. A full-term newborn was noted to have a large non-skin covered, semitransparent cystic lump in the occipital bone. He underwent computed tomography and a diagnosis of meningocele was proposed. After a few hours, the cystic lump spontaneously readsorbed. After 1 week the patient underwent magnetic resonance. Histology confirmed the diagnosis.