Related Experiment Video
Updated: Jun 25, 2026
08:03
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Is isolated sagittal synostosis an isolated condition?
Liselotte Butzelaar1, Corstiaan C Breugem, Patrick Hanlo
1Division of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
The Journal of Craniofacial Surgery
|March 12, 2009
Summary
Scaphocephaly, the most common craniosynostosis, rarely associates with other congenital anomalies. Preterm birth and male sex are linked to isolated sagittal synostosis.
Area of Science:
- Craniofacial Surgery
- Pediatric Genetics
- Congenital Anomalies
Background:
- Scaphocephaly is the most common form of craniosynostosis.
- Limited medical literature exists on scaphocephaly's association with other congenital anomalies.
Purpose of the Study:
- To investigate the prevalence of genetic anomalies in patients with scaphocephaly.
- To identify potential associated factors and congenital malformations.
Main Methods:
- Retrospective review of medical charts for 30 consecutive scaphocephaly patients.
- Parental questionnaires to gather demographic information.
- Genetic analysis performed on a subset of patients.
Main Results:
- A low incidence of associated congenital anomalies was observed.
- One patient with Gorlin-Goltz syndrome had an FGFR-2 gene mutation.
- Congenital heart and kidney malformations were noted in two patients.
- Associated factors for isolated sagittal synostosis included preterm birth and male sex.
Conclusions:
- Congenital anomalies are infrequently associated with scaphocephaly.
- Preterm birth and male sex are identified as associated factors for isolated sagittal synostosis.
Related Concept Videos
01:22Sutures of the Skull
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
01:21Hyperosmolar Hyperglycemic State
Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
02:44Oxidation of Alkenes: Syn Dihydroxylation with Osmium Tetraoxide
Alkenes are converted to 1,2-diols or glycols through a process called dihydroxylation. It involves the addition of two hydroxyl groups across the double bond with two different stereochemical approaches, namely anti and syn. Dihydroxylation using osmium tetroxide progresses with syn stereochemistry.
01:57Preparation of Diols and Pinacol Rearrangement
Compounds bearing two hydroxyl groups are known as diols. When the hydroxyl groups are located on adjacent carbon atoms, the diols are called vicinal diols or glycols. Under acidic conditions, vicinal diols undergo a specific reaction called pinacol rearrangement.
The reaction begins with transferring a proton from the acid catalyst to one of the hydroxyl groups, producing an oxonium ion.
The reaction begins with transferring a proton from the acid catalyst to one of the hydroxyl groups, producing an oxonium ion.
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes: