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Craniosynostosis And Dental Anomalies
Craniosynostosis and dental anomalies (CRSDA, also known as Kreiborg-Pakistani syndrome) is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies. Dental anomalies seen in this condition include malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Syndactyly, clinodactyly, and other digit anomalies may also be present. Signs and symptoms Features of this condition include, by area affected: * Head or neck: convex nasal ridge, delayed tooth eruption, dental crowding, dental malocclusion, depressed nasal bridge, downslanted palpebral fissures, flat forehead, high forehead, high palate, mandibular prognathia, midface retrusion, narrow palate, sloping forehead, supernumerary teeth, and wide nose * Limbs: two or three-toe syndactyly, broad hallux, clinodactyly, hallux valgus, short phalanx of finger * Eyes: hypertelorism, pailledema, proptosis * Immune system: chronic otitis media * Integument: fingerna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exophthalmos
Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral (as is often seen in Graves' disease) or unilateral (as is often seen in an orbital tumor). Complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma. Exophthalmos has endocrine causes. In the case of Graves' disease, the displacement of the eye results from abnormal connective tissue deposition in the orbit and extraocular muscles, which can be visualized by CT or MRI. If left untreated, exophthalmos can cause the eyelids to fail to close during sleep, leading to corneal dryness and damage. Another possible complication is a form of redness or irritation called superior limbic keratoconjunctivitis, in which the area above the cornea becomes inflamed as a result of increased friction when blinking. The process that is causing the disp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chiari Malformation
In neurology, the Chiari malformation ( ; CM) is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum (the opening at the base of the skull). CMs can cause headaches, difficulty swallowing, vomiting, dizziness, neck pain, unsteady gait, poor hand coordination, numbness and tingling of the hands and feet, and speech problems. Less often, people may experience ringing or buzzing in the ears, weakness, slow heart rhythm, fast heart rhythm, curvature of the spine (scoliosis) related to spinal cord impairment, abnormal breathing such as in central sleep apnea, and, in severe cases, paralysis. CM can sometimes lead to non-communicating hydrocephalus as a result of obstruction of cerebrospinal fluid (CSF) outflow. The CSF outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain. The malformation is named after the Austrian pathologist Hans Chiari. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Turricephaly
Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly (or acrocephaly) is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses. Presentation Common associations It may be associated with: * 8th cranial nerve lesion * Optic nerve compression * Intellectual disability * Syndactyly Conditions with turricephaly Conditions with turricephaly include: * Achondrogenesis, type IA * Acrocephalopolydactyly * Acrocephalosyndactyly type V (Goodman syndrome) * Acrocraniofacial dysostosis * Alopecia - contractures - dwarfism - intellectual disability syndrome * CEBALID syndrome * Chromosome 1q21.1 deletion syndrome * Chromosome 4q32.1-q32.2 triplication syndrome * Chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trigonocephaly
Trigonocephaly is a congenital condition due to premature Synostosis, 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 . Cause Trigonocephaly can either occur in a syndrome or isolated, all by itself. Trigonocephaly is associated with the following syndromes: Bohring-Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller–Gerold syndrome and Say–Meyer syndrome. The etiology of trigonocephaly is mostly unknown although there are three main theories. Trigonocephaly is probably a multifactorial congenital condition, but due to limited proof of these theories this cannot safely be concluded. Intrinsic bone malformation The first theory assumes that the origin of pathological synostosis lies within disturbed bone formation early on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sagittal Suture
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. Structure The sagittal suture is formed from the fibrous connective tissue joint between the two parietal bones of the skull. It has a varied and irregular shape which arises during development. The pattern is different between the inside and the outside. Two anatomical landmarks are found on the sagittal suture: the bregma, and the vertex of the skull. The bregma is formed by the intersection of the sagittal and coronal sutures. The vertex is the highest point on the skull and is often near the midpoint of the sagittal suture. Development At birth, the bones of the skull do not meet. The gap that remains, which is approximately 5 mm wide, allows for the brain to continue to grow normally after birth. The inner parts of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metopic Ridge
A metopic ridge is a condition with a palpable vertical ridge on the forehead of the skull along the metopic suture line, which runs along the from the top of the forehead down to between the eyebrows or middle of the nose. It is sometimes called benign metopic ridge when differentiated from trigonocephaly ("triangle shaped forehead") which is also caused by premature closure of the metopic suture. It is usually somewhat subjectively determined where the diagnostic threshold lies between metopic ridge and the more severe trigonocephaly, but machine learning algorithms have been demonstrated to classify patients consistent with classifications done manually by experts. Signs and symptoms A benign metopic ridge presents itself as a slight or noticeable ridge in the metopic suture (also called frontal suture), that is running down the middle of a child's forehead. The child otherwise has a mostly normally shaped forehead and head. A metopic ridge is usually a benign and isolated f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Turricephaly
Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly (or acrocephaly) is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses. Presentation Common associations It may be associated with: * 8th cranial nerve lesion * Optic nerve compression * Intellectual disability * Syndactyly Conditions with turricephaly Conditions with turricephaly include: * Achondrogenesis, type IA * Acrocephalopolydactyly * Acrocephalosyndactyly type V (Goodman syndrome) * Acrocraniofacial dysostosis * Alopecia - contractures - dwarfism - intellectual disability syndrome * CEBALID syndrome * Chromosome 1q21.1 deletion syndrome * Chromosome 4q32.1-q32.2 triplication syndrome * Chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Frontal Suture
The frontal suture is a fibrous joint that divides the two halves of the frontal bone of the skull in infants and children. Typically, it completely fuses between three and nine months of age, with the two halves of the frontal bone being fused together. It is also called the metopic suture, although this term may also refer specifically to a ''persistent frontal suture''. If the suture is not present at birth because both frontal bones have fused (craniosynostosis), it will cause a keel-shaped deformity of the skull called trigonocephaly. Its presence in a fetal skull, along with other cranial sutures and fontanelles, provides a malleability to the skull that can facilitate movement of the head through the cervical canal and vagina during delivery. The dense connective tissue found between the frontal bones is replaced with bone tissue as the child grows older. Persistent frontal suture In some individuals, the suture can persist (totally or partly) into adulthood, and is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scaphocephaly
Scaphocephaly or sagittal craniosynostosis is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull, resulting in a characteristic long, narrow head. The skull base is typically spared. The word comes . Scaphocephaly is the most common of the craniosynostosis conditions and accounts for approximately 50% of all craniosynostosis. It is most commonly idiopathic (non-syndromic). Etiology Non-syndromic The underlying cause of the non-syndromic form is unknown. Over 100 mutations have been associated, including mutations in the FGFR genes. Several potential risk factors have been identified for craniosynostosis include: * Advanced maternal age * White maternal race * Maternal smoking * Male infant * Certain paternal occupations (e.g. agriculture, forestry, repairmen) Syndromic Sagittal craniosynostosis is seen in many conditions and syndromes: * Acrocephalosy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skull Bossing
Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead ("frontal bossing"). Although prominence of the skull bones may be normal, skull bossing may be associated with certain medical conditions, including nutritional, metabolic, hormonal, and hematologic disorders. Frontal bossing Frontal bossing is the development of an unusually pronounced forehead which may also be associated with a heavier than normal brow ridge. It is caused by enlargement of the frontal bone, often in conjunction with abnormal enlargement of other facial bones, skull, mandible, and bones of the hands and feet. Frontal bossing may be seen in a few rare medical syndromes such as acromegaly – a chronic medical disorder in which the anterior pituitary gland produces excess growth hormone (GH). Frontal bossing may also occur in diseases resulting in chronic anemia, where there is increased hematopoiesis and enl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dolichocephaly
Dolichocephaly (derived from the Ancient Greek δολιχός 'long' and κεφαλή 'head') is a term used to describe a head that is longer than average relative to its width. In humans, scaphocephaly is a form of dolichocephaly. Dolichocephalic dogs (such as the Lurcher or German Shepherd) have elongated noses. This makes them vulnerable to fungal diseases of the nose such as aspergillosis. In humans the anterior–posterior diameter (length) of dolichocephaly head is more than the transverse diameter (width). Dolichocephaly can sometimes be a symptom of Sensenbrenner syndrome, Crouzon syndrome, Sotos syndrome, CMFTD and Marfan syndrome. However, it also occurs non-pathologically as a result of normal variation between human populations. The standards for denoting dolichocephaly are derived from Caucasian anatomy norms, and thus describing dolichocephaly as a medical condition may not reflect the diversity in different human populations. In anthropology, human population ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
