Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly. People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state.
The skull is a bone protective cavity for the brain. The skull is composed of four types of bone i.e., cranial bones, facial bones, ear ossicles and hyoid bone, however two parts are more prominent: the cranium and the mandible. In humans, these two parts are the neurocranium (braincase) and the viscerocranium that includes the mandible as its largest bone. The skull forms the anterior-most portion of the skeleton and is a product of cephalisation—housing the brain, and several sensory structures such as the eyes, ears, nose, and mouth. In humans, these sensory structures are part of the facial skeleton.
A fontanelle is an anatomical feature of the infant human skull comprising soft membranous gaps (sutures) between the cranial bones that make up the calvaria of a fetus or an infant. Fontanelles allow for stretching and deformation of the neurocranium both during birth and later as the brain expands faster than the surrounding bone can grow. Premature complete ossification of the sutures is called craniosynostosis.
Trigonocephaly is a congenital condition due to premature fusion of the metopic suture, leading to a triangular forehead. The premature merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur as one component of a syndrome together with other abnormalities, or in isolated form. The term is from the Greek trigonon, "triangle", and kephale, "head".
The occipital bone is a cranial dermal bone and the main bone of the occiput. It is trapezoidal in shape and curved on itself like a shallow dish. The occipital bone overlies the occipital lobes of the cerebrum. At the base of the skull in the occipital bone, there is a large oval opening called the foramen magnum, which allows the passage of the spinal cord.
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. The syndrome is caused by a mutation in a gene on chromosome 10 that controls the body's production of fibroblast growth factor receptor 2 (FGFR2).
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ.
The crown is the top portion of the head behind the vertex. The anatomy of the crown varies between different organisms. The human crown is made of three layers of the scalp above the skull. The crown also covers a range of bone sutures, and contains blood vessels and branches of the trigeminal nerve.
A skull fracture is a break in one or more of the eight bones that form the cranial portion of the skull, usually occurring as a result of blunt force trauma. If the force of the impact is excessive, the bone may fracture at or near the site of the impact and cause damage to the underlying structures within the skull such as the membranes, blood vessels, and brain.
Craniofacial surgery is a surgical subspecialty that deals with congenital and acquired deformities of the head, skull, face, neck, jaws and associated structures. Although craniofacial treatment often involves manipulation of bone, craniofacial surgery is not tissue-specific; craniofacial surgeons deal with bone, skin, nerve, muscle, teeth, and other related anatomy.
The sagittal suture, also known as the interparietal suture and the sutura interparietalis, is a dense, fibrous connective tissue joint between the two parietal bones of the skull. The term is derived from the Latin word sagitta, meaning arrow.
The lambdoid suture is a dense, fibrous connective tissue joint on the posterior aspect of the skull that connects the parietal bones with the occipital bone. It is continuous with the occipitomastoid suture.
The coronal suture is a dense, fibrous connective tissue joint that separates the two parietal bones from the frontal bone of the skull.
The pterion is the region where the frontal, parietal, temporal, and sphenoid bones join. It is located on the side of the skull, just behind the temple. It is also considered to be the weakest part of the skull, which makes it clinically significant, as if there is a fracture around the pterion it could be accompanied by an epidural hematoma.
Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet (syndactyly). Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development. Cranial sutures allow the skull bones to continue growing until they fuse at age 24. Premature fusing of the cranial sutures can result in alterations to the skull shape and interfere with brain growth. Syndactyly occurs when digits of the hands or feet are fused together. When polydactyly is also present, the classification is acrocephalopolysyndactyly. Polydactyly occurs when the hands or feet possess additional digits. Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as the conditions are typically inherited in an autosomal dominant pattern Treatment often involves surgery in early childhood to correct for craniosynostosis and syndactyly.
In anatomy, fibrous joints are joints connected by fibrous tissue, consisting mainly of collagen. These are fixed joints where bones are united by a layer of white fibrous tissue of varying thickness. In the skull, the joints between the bones are called sutures. Such immovable joints are also referred to as synarthroses.
The calvaria is the top part of the skull. It is the superior part of the neurocranium and covers the cranial cavity containing the brain. It forms the main component of the skull roof.
McGillivray syndrome is a rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia. The symptoms of this syndrome are ventricular septal defect, patent ductus arteriosus, small jaw, undescended testes, and webbed fingers. Beside to these symptoms there are more symptoms which is related with bone structure and misshape.
Metopism is the condition of having a persistent metopic suture, or persistence of the frontal metopic suture in the adult human skull. Metopism is the opposite of craniosynostosis. The main factor of the metopic suture is to increase the volume of the anterior cranial fossa. The frontal bone includes the forehead, and the roofs of the orbits of the eyes. The frontal bone has vertical portion (squama) and horizontal portion. Some adults have a metopic or frontal suture in the vertical portion. In uterine period in right and left half of frontal region of the fetus there is a membrane tissue. On each half a primary ossification center appears about the end of the second month of the fetus. Primary ossification center extends to form the corresponding half of the vertical part (squama) and horizontal part of the frontal bone.
The frontonasal suture is a cranial suture that is found in the human skull, connecting the frontal bone and the two nasal bones. This suture meets the internasal suture at the nasion. It is crucial in the study of cranial development and forensic analysis.
