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Apert's Syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics. Linguistically, in the term "acrocephalosyndactyly", ''acro'' is Greek for "peak", referring to the "peaked" head that is common in the syndrome; ''cephalo'', also from Greek, is a combining form meaning "head"; ''syndactyly'' refers to webbing of fingers and toes. In embryology, the hands and feet have selective cells that die in a process called selective cell death, or apoptosis, causing separation of the digits. In the case of acrocephalosyndactyly, selective cell death ...
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Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans. The term is from Greek σύν, ''syn'' 'together' and δάκτυλος, ''daktulos'' 'finger'. Classification Syndactyly can be simple or complex. * In simple syndactyly, adjacent fingers or toes are joined by soft tissue. * In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly. Syndactyly can be complete or incomplete. * In complete syndactyly, the skin is joined all the way to the tip of the involved digits. * In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits. Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly. Fenestrated syndactyly, also known as acrosyndactyly or terminal syndactyly, means the skin is joine ...
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Trigonocephaly
Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from the Greek , "forehead"), leading to a triangular forehead. The merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur syndromic, involving other abnormalities, or isolated. The term is from the Greek , "triangle", and , "head". Cause Trigonocephaly can either occur syndromatic or isolated. Trigonocephaly is associated with the following syndromes: 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 in the pregnan ...
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Coronal Sutures
The coronal suture is a dense, fibrous connective tissue joint that separates the two parietal bones from the frontal bone of the skull. Structure The coronal suture lies between the paired parietal bones and the frontal bone of the skull. It runs from the pterion on each side. Nerve supply The coronal suture is likely supplied by a branch of the trigeminal nerve. Development The coronal suture is derived from the paraxial mesoderm. Clinical significance If certain bones of the skull grow too fast then premature fusion of the sutures may occur. This can result in skull deformities. There are two possible deformities that can be caused by the premature closure of the coronal suture: * a high, tower-like skull called "oxycephaly" or "turret skull". * a twisted and asymmetrical skull called "plagiocephaly". References * "Sagittal suture." ''Stedman's Medical Dictionary, 27th ed.'' (2000). * Moore, Keith L., and T.V.N. Persaud. ''The Developing Human: Clinically Orien ...
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Brachycephaly
Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than typical for its species. It is perceived as a desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species. In humans, the cephalic disorder is known as flat head syndrome, and results from premature fusion of the coronal sutures, or from external deformation. The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal bones form the top and sides of the skull. This feature can be seen in Down syndrome. In anthropology, human populations have been characterized as either dolichocephalic (long-headed), mesaticephalic (moderate-headed), or brachycephalic (short-headed). The usefulness of the cephalic index was questioned by Giuseppe Sergi, who argued that cranial morphology provided a better mean ...
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Oxycephaly
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 Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia, but is an unusual condition in humans. The term is from Greek σύν, ''syn'' 'together' and δάκ ... Diagnosis Treatment See also * Acrocephalosyndactylia References Further reading NINDS Overview* External links Congeni ...
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Lambdoidal Suture
The lambdoid suture (or lambdoidal 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. Structure The lambdoid suture is between the paired parietal bones and the occipital bone of the skull. It runs from the asterion on each side. Nerve supply The lambdoid suture may be supplied by a branch of the supraorbital nerve, a branch of the frontal branch of the trigeminal nerve. Clinical significance At birth, the bones of the skull do not meet. If certain bones of the skull grow too fast, then craniosynostosis (premature closure of the sutures) may occur. This can result in skull deformities. If the lambdoid suture closes too soon on one side, the skull will appear twisted and asymmetrical, a condition called "plagiocephaly". Plagiocephaly refers to the shape and not the condition. The condition is craniosynostosis. The lambdoid sutu ...
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Plagiocephaly
Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. A mild and widespread form is characterized by a flat spot on the back or one side of the head caused by remaining in a supine position for prolonged periods. Plagiocephaly is a diagonal asymmetry across the head shape. Often it is a flattening which is to one side at the back of the head and there is often some facial asymmetry. Depending on whether synostosis is involved, plagiocephaly divides into two groups: synostotic, with one or more fused cranial sutures, and non-synostotic (deformational). Surgical treatment of these groups includes the deference method; however, the treatment of deformational plagiocephaly is controversial. Brachycephaly describes a very wide head shape with a flattening across the whole back of the head. Causes Slight plagiocephaly is routinely diagnosed at birth and may be the result of a restrictive intrau ...
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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 ...
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Dolichocephaly
Dolichocephaly (derived from the Ancient Greek δολιχός 'long' and κεφαλή 'head') is a condition where the head is longer than would be expected, relative to its width. In humans, scaphocephaly is a form of dolichocephaly. Dolichocephalic dogs (such as German Shepherds) 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). It can be present in cases of Sensenbrenner syndrome, Crouzon syndrome, Sotos syndrome, CMFTD as well as Marfan syndrome. See also * Brachycephaly * Cephalic index * Plagiocephaly Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. A mild and widespread form is characterized by a flat spot on the back or one side of the head cause ... References External links Congenital di ...
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Lambdoid Suture
The lambdoid suture (or lambdoidal 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. Structure The lambdoid suture is between the paired parietal bones and the occipital bone of the skull. It runs from the asterion on each side. Nerve supply The lambdoid suture may be supplied by a branch of the supraorbital nerve, a branch of the frontal branch of the trigeminal nerve. Clinical significance At birth, the bones of the skull do not meet. If certain bones of the skull grow too fast, then craniosynostosis (premature closure of the sutures) may occur. This can result in skull deformities. If the lambdoid suture closes too soon on one side, the skull will appear twisted and asymmetrical, a condition called "plagiocephaly". Plagiocephaly refers to the shape and not the condition. The condition is craniosynostosis. The lambdoid sut ...
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