All Rights Reserved Sign In Access through your institution Sign In March 1973 Am J Dis Child. 1973;125(3):389-393. doi:10.1001/archpedi.1973.04160030057011 Full Text Four members of one family present a syndrome of telecanthus, lateral displacement of [jamanetwork.com]

Constellation of these features presented a phenotypic overlap withBlepharo-naso-facial syndrome (BNFS) and Nablus mask-like syndrome (NMLS). They in addition hadposterior helical pits. [tandfonline.com]

CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. [phgkb.cdc.gov]

A Family With Blepharo-Naso-Facial Malformations Pashayan, Hermine;Pruzansky, Samuel;Putterman, Allen 1973-03-01 00:00:00 Abstract Four members of one family present a syndrome of telecanthus, lateral displacement of the puncta from the inner canthi, [deepdyve.com]

Here, we present a VMS patient with congenital malformations of the middle ear as the main reason for severe conductive bilateral hearing impairment. To our knowledge, this is the first report to describe middle ear abnormalities in VMS. [researchportal.vub.be]

• Overeating

  Menstrual periods in women with POI become less frequent over time and stop before the age of 40 thus leading to either difficulty (subfertility) or inability to conceive (infertility). [rarediseases.org]

  The overlying cerebral cortex was formed with a simplified gyral pattern, more so posteriorly than anteriorly, to the extent that the cortical surface was nearly smooth over the lateral and inferior surface of the temporal and occipital lobes. [nature.com]

Intramedullary rodding and bisphosphonate treatment of polyostotic fibrous dysplasia associated with the McCune-Albright syndrome. [eamas.net]

Standard Therapies Treatment Treatment for BPES needs to address both the eyelid malformation and the premature ovarian insufficienty in type I patients. [rarediseases.org]

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment. Int Ophthalmol Clin. 2008 Spring;48(2):15-23. doi: 10.1097/IIO.0b013e3181694eee. Review. [medlineplus.gov]

Reserved prognosis. ☞Tel Hashomer Camptodactyly Syndrome: Genetic disorder with muscular hypoplasia, skeletal anomalies, increased creatine phosphokinase levels, and abnormal electromyogram. [accesspediatrics.mhmedical.com]

Editorial comments on the etiology of the Cornelia de Lange syndrome, Year Book of Pediatrics, 1964–65 series. Google Scholar Opitz J.M. Birth defect reprint series, Cornelia de Lange syndrome. RE-RS. March, 1965; : 16 Google Scholar Choo P.B. [jpeds.com]

Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology. 2010;138:487–92. [ncbi.nlm.nih.gov]

Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. [phgkb.cdc.gov]

Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. [ncbi.nlm.nih.gov]

Article CAS Google Scholar Fox JW, Lamperti ED, Eksioglu YZ et al Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998 21: 1315–1325. [nature.com]