Search results for "craniofacial abnormalities"
showing 6 items of 26 documents
Endoscopic dissection of dura and craniotomy with minimal trephines: a preliminary series.
1998
The first nine clinical cases using endoscopic dissection of dura and craniotomy with minimal trephines were performed from June to August 1997 after trial dissection of 19 fresh cadavers conducted at the University of Brno's Pathology Institute in the Czech Republic. These procedures involved the refinement of craniofacial and intracranial surgical techniques using the endoscope and prototype instruments. These dissections demonstrated that intracranial structures can be explored using an endoscope without encumbrance, and that major craniofacial surgeries may also be performed with minor incisions and minimal craniotomies. Furthermore, we seek to illustrate that use of the endoscope in cr…
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
2020
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
1996
A new type of osteodysplastic primordial dwarfism is delineated in a 5- year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.
Data from: Novel adverse outcome pathways revealed by chemical genetics in a developing marine fish
2017
Crude oil spills are a worldwide ocean conservation threat. Fish are particularly vulnerable to the oiling of spawning habitats, and crude oil causes severe abnormalities in embryos and larvae. However, the underlying mechanisms for these developmental defects are not well understood. Here, we explore the transcriptional basis for four discrete crude oil injury phenotypes in the early life stages of the commercially important Atlantic haddock (Melanogrammus aeglefinus). These include defects in (1) cardiac form and function, (2) craniofacial development, (3) ionoregulation and fluid balance, and (4) cholesterol synthesis and homeostasis. Our findings suggest a key role for intracellular cal…
Diagnostic of craniofacial asymmetry : literature review
2009
Facial asymmetry is a common feature in many syndromes, and requires surgery as the only valid treatment option. Routine diagnostic methods (frontal RX, panoramic RX and submentovertex RX) have serious limitations mainly due to the transfer from a three dimensional image to a two dimensional plane. The feasibility of such methods is poorly supported due to inherent projection errors (image magnification, cranial rotation) and identification errors (image quality, precision and reproducibility). The use of computer tomographies represents a substantial improvement in the sense of skeletal and soft tissue structures? reproduction precision. The interpretation of this new data source makes evi…
Orthopedic-orthodontic treatment of the patient with Turner's syndrome: Review of the literature and case report.
2018
Aims Turner syndrome (TS) patients have phenotypical variable presentations and they are more susceptible to endocrine, auto-immune, and structural anomalies. Typical clinical characteristics are short stature and premature ovarian insufficiency. Patients with TS show a typical cranial-facial morphology with bi-maxillary bi-retrusion, high-arched palate, micrognathia, and class II malocclusion. Aim of our study is to present the orthopedic-orthodontic treatment approach of a young TS patient and data of stability after 7 years. Methods and results A careful analysis of anamnestic data was performed. After extraoral and intraoral examination, cephalometric measurements and examination of mod…