81. Craniosynostosis -- Discovery Health -- Facial Malformations none. apert syndrome apert syndrome is a rare condition. The incidence of infantsborn with apert syndrome is one for every 100,000 to 160,000 live births. http://health.discovery.com/stories/gift/cranio2.html

none Apert Syndrome Apert syndrome is a rare condition. The incidence of infants born with Apert syndrome is one for every 100,000 to 160,000 live births. Many of the infants born with this syndrome show a sporadic transmission, which means that a family may have a child with Apert's when no other members of the family are affected. The recurrent risk of having another child with Apert's for two unaffected parents is negligible. However, if the parent is affected there is a 50 percent chance of each offspring having Apert syndrome with both males and females affected equally. Patients with Apert syndrome have very distinct facial and extremity features. Abnormal skull shape is due to craniosynostosis or premature fusion of the sutures or soft spots. The forehead is generally always retruded, but this may not be obvious due to hypoplasia of the midface. The orbits or bony sockets that contain the eyes are very shallow causing a bulging or proptosis. The middle of the face is both retruded and very hypoplastic. This causes the central midface to have a characteristic sunken-in appearance with the nose being thick and beaked. The upper jaw or maxilla characteristically shows a narrow arch with an open bite and dental crowding. The maxilla is significantly retruded compared to the mandible with the teeth of the lower jaw projecting in front of the lower teeth. Other possible clinical features include moderate hearing loss, speech impairment, acne, and decreased mental capability in some individuals.

82. Disease-causing Genetic Mutations In Sperm Increase With Men's Age The disease, apert syndrome, leads to webbed fingers and early fusion of theskull bones and must be corrected by surgery. Back to EurekAlert! http://www.eurekalert.org/pub_releases/2002-10/jhmi-dgm101702.php

Public release date: 17-Oct-2002 Contact: Joanna Downer jdowner1@jhmi.edu Johns Hopkins Medical Institutions Disease-causing genetic mutations in sperm increase with men's age Scientists from the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins may have discovered why a rare genetic disease is more common in children born to older fathers. The disease, Apert syndrome, leads to webbed fingers and early fusion of the skull bones and must be corrected by surgery. While Apert syndrome itself affects only 1 in 160,000 births, the scientists believe their findings could extend to many of the 20 or so other genetic conditions similarly linked to older fathers. The researchers are scheduled to present their findings Oct. 17 at the annual meeting of the American Society for Human Genetics in Baltimore. "It makes sense that the mutations causing these diseases would occur more frequently in older men, and indeed that's what we saw for Apert syndrome," says Ethylin Jabs, M.D., director of the Center for Craniofacial Development and Disorders at Johns Hopkins. Importantly, disorders linked to advancing paternal age begin to increase rapidly at about the same time as maternal risks increase age 33 to 35. Until now, the only evidence for paternal age effects has come from determining how many children with these diseases are born to fathers of various ages.

83. Health Library Find Information On Apert Syndrome At MerckSource Find information on apert syndrome at MerckSource. Learn more about Apertsyndrome apert syndrome. Definition A genetic disease which may http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

84. Apert's Syndrome apert's syndrome. apert's syndrome is a relatively uncommon craniofacialcondition. It occurs with a frequency of one in 160,000 live births. http://www.worldcf.org/cran_3c1.html

World Craniofacial Foundation 7777 Forest Lane, Ste C-621 P.O. Box 515838 Dallas, TX 75251-5838 fax 972-566-3850 worldcf@worldnet.att.net Apert's Syndrome Apert's syndrome is a relatively uncommon craniofacial condition. It occurs with a frequency of one in 160,000 live births. The condition may be inherited with a frequency of 50% in the off-spring of an affected adult, or may develop as a spontaneous mutation. Characteristics The physical features of this condition were described by Frederick Apert in 1942 and include: A tower-shaped skull due to craniosynostosis An under-developed mid-face leading to recessed cheek bones and prominent eyes. Malocclusion Limb abnormalities such as webbing of the middle digits of the hands and feet Some other features commonly seen in this condition are visual disturbances related to an imbalance of the muscles that move the eyes, a hearing loss due to recurrent ear infections, and varying degrees of acne. There can be a reduced intellectual capacity in some individuals but there are some children with this condition who have normal intelligence. Children with Apert's have fusion of the bones of their fingers and toes, characterized by the "mitten-like appearance of their hands. This is called syndactyly. Cardiac and gastrointestinal malformations may be present in Apert's patients which have not been described for those individuals with other syndromes. Cause The basic cause of this is linked to a single gene alteration of Fibroblast Growth Factor. Their occurrence is sporadic and extremely rare. In most cases of Apert's, the deformity occurs from abnormal occurrence in the genes which cannot be traced to a specific cause. Usually, the parents are not affected and the risk for future children of that couple to have Apert's is minimal. The offspring of an Apert's patient have a 50-60% chance of inheriting the syndrome.

85. Apert's Syndrome (www.whonamedit.com) apert's syndrome A complex of craniofacial abnormalities caused by premature craniosynostosis,usually of the coronal suture, leading to turribrachycephaly http://www.whonamedit.com/synd.cfm/194.html

Home List categories Eponyms A-Z Biographies by country ... Contact Apert's syndrome Also known as: Apert's syndactyly Synonyms: Acrocephalosyndactylism, acrocephalosyndactyly type I, acrocephaly with syndactyly, acrocraniodysphalangia, acrodysplasia, syndactylic oxycephaly syndrome. Associated persons: Eugène Charles Apert Description: A complex of craniofacial abnormalities caused by premature craniosynostosis, usually of the coronal suture, leading to turribrachycephaly, associated with syndactyly and polydactyly. Cranial abnormalities are of the brachysphenocephalic type with high forehead, small nose, supraorbital horizontal groove, shallow orbits, antimongoloid palpebral fissures, hypoplastic maxilla, and narrow palate. Cleft palate may occur. Syndactyly is due to osseous fusion of the second and fourth fingers with a single nail and soft tissue fusion of the fourth or second to fifth, or of all toes, thus giving the hands and feet a mitten-like appearance. There may be also shortening of upper extremities, deformation of the pectoral girdle, and abnormalities of genitourinary, gastrointestinal, and cardiovascular systems. The syndrome is transmitted as an autosomal dominant trait. Acrocephalosyndactylies now regarded as heterogeneous and five forms have been delineated. These bear eponyms and numerical designations, the classic Apert syndrome being type I. There is, however, controversy concerning the syndromic identity of certain of these disorders and their independent status is by no means certain.

86. Www.whonamedit.com found. André's syndrome. A syndrome of peculiar facies and osseous defect.apert's syndactyly (apert's syndrome). A polydactyly. apert's syndrome. A http://www.whonamedit.com/syndlist.cfm/61

Home List categories Eponyms A-Z Biographies by country ... Contact Eponyms in category: Craniofacial 26 main and alternative entries found. André's syndrome A syndrome of peculiar facies and osseous defect. Apert's syndactyly (Apert's syndrome) A complex of craniofacial abnormalities caused by premature craniosynostosis, usually of the coronal suture, leading to turribrachycephaly, associated with syndactyly and polydactyly. Apert's syndrome A complex of craniofacial abnormalities caused by premature craniosynostosis, usually of the coronal suture, leading to turribrachycephaly, associated with syndactyly and polydactyly. Apert-Crouzon syndrome A rare form of Carpenter's syndrome (acrocephalopoysyndactyly) combining features of the Apert syndrome with those of the Crouzon syndrome. Cervenka’s syndrome (Pepper's syndrome) An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism. Cohen's syndrome (Pepper's syndrome) An inherited disorder characterized by craniofacial anomalies, skeletal abnormalities, obesity, mental retardation, and myotonia; without short stature or hypogonadism.

87. Apert's Syndrome, Vanderbilt Craniofacial Treatment Center apert's syndrome apert's syndrome also results from premature fusionof the skull and hypoplastic facial development. Syndactyly http://www.surgery.mc.vanderbilt.edu/surgery/plastic/cfa/apert.htm

Indications for Craniofacial Surgery Appointments Craniofacial Treatment Center Home Page Plastic Surgery ... Home Page Apert's Syndrome Apert's syndrome also results from premature fusion of the skull and hypoplastic facial development. Syndactyly, the fusion of the fingers and commonly known as webbing, is found with this syndrome. The cranial and midfacial deformities of Apert's syndrome can be addressed surgically to decrease the risk of optic difficulties or blindness secondary to orbital hypoplasia. Surgery also gives these children a more pleasing appearance and, thus, a greater acceptance among their peers. Additionally, surgery can be performed to separate the fingers. This should be done as early as possible to increase the fingers' finctional potential. Return to Indications for Craniofacial Surgery VUMC Home About VUMC ... Search URL: http://www.surgery.mc.vanderbilt.edu/surgery/plastic/cfa/apert.htm Section Web Support Last Modified: Friday, 19 February 1999

88. Apert's Syndrome apert's syndrome, Pediatric neurosurgery Specialty Center. figure patientwith apert's syndrome. Return to uscneurosurgery.com Homepage. http://uscneurosurgery.com/glossary/a/aperts syndrome.htm

Apert's syndrome Congenital syndrome associated with craniofacial and digital developmental failure with craniosynostosis and syndactyly (fusion of adjacent digits [fingers and toes], midface hypoplasia (failure of normal growth of the bones of the face below the eyes and above the jaw [mandible]) and frequently hydrocephalus Failure of development occurring late in gestation (pregnancy).. Apert's and Cruzon's are craniofacial syndromes compare: Crouzon's syndrome Pediatric neurosurgery Specialty Center figure: patient with Apert's syndrome Return to uscneurosurgery.com Homepage

89. Apert's Syndrome one click For Medical Professionals only. apert's syndrome,, Printthis article, (Eugene apert, 1868–1940, French paediatrician http://www.amershamhealth.com/medcyclopaedia/Volume III 1/Aperts syndrome.html

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Apert's syndrome, (Eugene Apert, 1868–1940, French paediatrician), an autosomal dominant disorder characterized by closure of the sutures, hypoplasia of the midface, and syndactyly of both hands and feet. At birth affected infants also have an extensive midline calvarial defect. The calvaria is thin and undermineralized. Brachycephaly is seen after the first 4 years of life when the sagittal suture area closes. The child has small orbits, a hypoplastic maxilla and a small nasopharynx. In addition, the thumb is deviated and a complex osteocartilaginous syndactyly of the distal phalanges is seen. Abnormalities of the foot include syndactyly, a triangular first proximal phalanx, and progressive fusion of tarsal and metatarsal bones. Bone fusion may also be evident in other joints, including the cervical spine. (See acrocephalosyndactyly (III:1), Fig. 1

90. Apert's Syndrome only. apert's syndrome,, Print this article, (Eugene apert, 1868–1940,French paediatrician), type I acrocephalosyndactyly. Associated http://www.amershamhealth.com/medcyclopaedia/Volume VI 2/APERTS SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Apert's syndrome, (Eugene Apert, 1868–1940, French paediatrician), type I acrocephalosyndactyly . Associated with congenital conductive hearing loss ; fixation of the stapes is the most consistent reported abnormality. CT of the temporal bones may reveal deformed and ankylosed ossicles; upward tilt of the petrous pyramids and short, dilated lateral semicircular canals have also been reported. RH The Encyclopaedia of Medical Imaging Volume VI:2 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

91. Apert's Syndrome apert's syndrome. Classification Home Page eHand Home Page. Secret Fun Links! http://www.eatonhand.com/clf/clf272.htm

Apert's Syndrome Classification Home Page e-Hand Home Page

92. APERT'S SYNDROME Home Catalog Category Order Search. CMSP Clinical Images.PEDIATRIC IMAGES. apert'S syndrome. View More Images Like This. About http://catalog.cmsp.com/data1/im040004.htm

CMSP Clinical Images PEDIATRIC IMAGES APERT'S SYNDROME View More Images Like This About Custom Medical License Images Online Still Images Catalog ... Art Directors Access email: netpix@cmsp.com Custom Medical Stock Photo,Inc. mediaMD.com 3660 W. Irving Park Road Chicago, Illinois 60618 USA

93. Apert's Syndrome - General Practice Notebook Practice Notebook. apert's syndrome. apert's syndrome consists of craniosynostosis;midfacial hypoplasia; syndactyly of 2 to 5 digits. The http://www.gpnotebook.co.uk/cache/-657457130.htm

Apert's syndrome Apert's syndrome consists of: craniosynostosis midfacial hypoplasia syndactyly of 2 to 5 digits The major cardiovascular manifestation that occurs with this syndrome is a ventricular septal defect. Mental retardation and cleft palate are common sequelae. Apert's syndrome is transmitted in an autosomal dominant manner. Most cases are the result of new mutations as the chance of reproduction is reduced. The underlying error is in the fibroblast growth factor receptor II, encoded on chromosome 10. Click here for more information...

94. Pronounced And Early Acne In Apert's Syndrome: A Case Successfully Treated With Pronounced and early acne in apert's syndrome a case successfully treatedwith oral isotretinoin. European Journal of Dermatology. Vol. http://www.john-libbey-eurotext.fr/articles/ejd/12/5/496-8/en-resum.htm

European Journal of Dermatology. Vol. 12, Issue 5, September - October 2002 Pronounced and early acne in Apert's syndrome: a case successfully treated with oral isotretinoin European Journal of Dermatology. Vol. 12, Issue 5, September - October 2002: 496-8, Clinical Reports Summary: An unusual case of widespread acne unresponsive to treatment with early onset in a child with Apert's syndrome is presented. The patient eventually responded to oral isotretinoin therapy. The morphological profile of the sebaceous glands and the expression of proliferative markers and androgen receptors were evaluated in seboblasts and sebocytes using morphological, ultrastructural and immunohistochemical techniques. There were no significant differences in staining for proliferative markers and nuclear expression of androgen receptors in the glands from the patient and four healthy controls. Our results support the view that acne in Apert's syndrome is not sustained by abnormalities of the sebaceous glands demonstrable with conventional morphological techniques, and that it does not depend on an increased expression of androgen receptors. Author(s): Anna CAMPANATI, Barbara MARCONI, Luca PENNA, Massimiliano PAOLINELLI, Annamaria OFFIDANI

95. Uhrad.com Pediatric Imaging Teaching Files uhrad.com Pediatric Imaging Teaching Files. Case Eighty Six - apert'ssyndrome. Diagnosis apert's syndrome with mitten hand deformity. http://www.uhrad.com/pedsarc/peds086.htm

uhrad.com - Pediatric Imaging Teaching Files Case Eighty Six - Apert's Syndrome Click on Images for Enlarged View Clinical History: One-month-old with hand and foot malformation with question of syndrome. Findings: Two views of the left hand reveal multiple abnormalities including syndactyly involving fusion of the third and fourth middle phalanges and irregular fusion of distal phalanges. There is soft tissue fusion as well as abnormal bay appearance of the first digit (thumb). Diagnosis: Apert's syndrome with "mitten hand" deformity. Discussion: Apert's Syndrome also known as acrocephalosyndactyly of the Apert type occurs in approximately 15.5 cases per one million births. Most are sporadic; however, autosomal dominant and Mosaic forms are present. The most prominent finding is early closure of cranial sutures (cranial synostosis), more commonly affecting coronal sutures. Additional skeletal findings include limb deformity with syndactyly of the digits in upper and lower extremities, known as "mitten hand" and "sock foot" deformities. Craniofacial and CNS findings are also associated with the syndrome. References: Taybi and Lachman: Radiology of Syndromes.

96. Apert's Syndrome apert's syndrome. BASICS DESCRIPTION Autosomal dominant mutationcharacterized by acrocephalosyndactyly and mental retardation. http://www.5mcc.com/Assets/SUMMARY/0076.html

97. Untitled Teeter's Page has MOVED!! Please visit our wonderful new site at. www.apert.org.And come back soon for Cat and Don's Personal Home Pages!!! http://users.aol.com/catndon/private/teeter.htm

Teeter's Page has MOVED!! Please visit our wonderful new site at www.apert.org And come back soon for Cat and Don's Personal Home Pages!!!

98. Recently At ETango March 2003 ETango Signs Agreement With Recently at eTango March 2003 eTango signs agreement with VivendiUniversalto circulate the eTango Mobile Theme Park Guide. http://www.apertinfo.com/

Contact Sales... Phone email sales@etango.com Recently at eTango... March 2003 eTango signs agreement with Vivendi-Universal to circulate the eTango Mobile Theme Park Guide. December 2002 eTango signs cooperation agreement with IBM to ensure compatibility and jointly promote eTango's OSGi software on IBM's WEES. November 2002 eTango deploys their @ttract solution as the application framework for the Sun Financial Services Model Financial Institution Solution. The Model FI is deployed at Sun Microsystems Executive Briefing Center at Sun's Headquarters in Menlo Park, CA.. We develop niche "Killer Applications!" that create Awesome Experiences on the phone. Our applications connect with consumers and extend your brand experience. We have developer tools including a rich UI toolkit and an automated application publishing system.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-98 of 98    Back | 1  | 2  | 3  | 4  | 5