Páginas: 7 (1537 palabras) Publicado: 13 de abril de 2010
|Other conditions in which craniofacial anomalies|
|may occur: |
|Apert’s Syndrome – The head usually appears |
|short in the front and back and may be pointed |
|at the top. Other characteristics may include |
|webbed fingers and toes, widely spaced and |
|protruding eyes, and dental crowding. |
|CarpenterSyndrome – This syndrome typically |
|includes traits such as abnormally short |
|fingers, webbed toes, extra toes, underdeveloped|
|jaw, highly arched palate, widely spaced eyes, |
|and/or low-set, deformed ears. Half of patients |
|with Carpenter syndrome also have heart defects.|
|Cleft Palate / Cleft Lip – The incomplete |
|closure of the lip and/or the roof of the mouth ||results in this defect. |
|Crouzon’s Syndrome – Characterized by |
|abnormalities in the skull and facial bones, |
|this syndrome often causes the skull to be short|
|in the front and the back. Flat cheek bones and |
|a flat nose are also typical of this disorder. |
|Pfeiffer Syndrome – This rare disorder is |
|characterized by abnormalities ofthe skull, |
|hands, and feet. |
|Saethe-Chotzen – An unusually short or broad |
|head is usually an indicator of this disorder. |
|In addition, the eyes may be spaced wide apart |
|and have droopy eyelids, and fingers may be |
|abnormally short and webbed. |

What is craniosynostosis?
The normal skull consists of several platesof bone that are separated by sutures. The sutures (fibrous joints) are found between the bony plates in the head. As the infant grows and develops, the sutures close, forming a solid piece of bone, called the skull.
Craniosynostosis is a condition in which the sutures close too early, causing problems with normal brain and skull growth. Premature closure of the sutures may also cause thepressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance.
What causes craniosynostosis?
Craniosynostosis occurs in one out of 2,000 live births and affects males twice as often as females.
Craniosynostosis is most often sporadic (occurs by chance). In some families, craniosynostosis is inherited in one of two ways:
autosomal recessiveAutosomal recessive means that two copies of the gene are necessary to express the condition, one inherited from each parent, who are obligate carriers. Carrier parents have a one in four, or 25 percent, chance with each pregnancy, to have a child with craniosynostosis. Males and females are equally affected.
autosomal dominant
Autosomal dominant means that one gene is necessary to express thecondition, and the gene is passed from parent to child with a 50/50 risk for each pregnancy. Males and females are equally affected.
Craniosynostosis is a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present. It is important for the child as well as family members to be examined carefully forsigns of a syndromic cause (inherited genetic disorder) of craniosynostosis such as limb defects, ear abnormalities, or cardiovascular malformations.
What are the different types of craniosynostosis?
There are numerous types of craniosynostosis. Different names are given to the various types, depending on which suture, or sutures, are involved, including the following:
plagiocephalyPlagiocephaly occurs the most often. It happens in approximately one out of every 2,500 births. It involves fusion of either the right or left side of the coronal suture that runs from ear to ear. This is called coronal synostosis and it causes the normal forehead and the brow to stop growing. Therefore, it produces a flattening of the forehead and the brow on the affected side, with the forehead...
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