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]

• Disability

  GARD: 19 Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability [malacards.org]

  The main features of this syndrome comprise intellectual disability, blepharo-naso-facial malformation, and hand anomalies. [researchportal.vub.be]

  Specific PHGKB|Rare Diseases PHGKB|PHGKB Blepharo Naso Facial Syndrome Van Maldergem Type Quick Links CDC National Center on Birth Defects and Developmental Disabilities NIH Genetic and Rare Diseases Information Center Disclaimer: Articles listed in the [phgkb.cdc.gov]

  The blepharo-naso-facial syndrome, also called Pashayan syndrome or Pashayan-Pruzansky syndrome after the first description, is a combination of these that has only been described in a few families Intellectual disabilities Telekanthus Lacrimal duct obstruction [de.zxc.wiki]

  Fetal Alcohol Syndrome (FAS): Characterized by dysmorphic features (most often midfacial anomalies), intrauterine growth retardation with failure to achieve catch-up growth, and central nervous system involvement with cognitive impairment and learning disabilities [accessanesthesiology.mhmedical.com]

• Hand Deformity

  Abnormalities, Multiple/diagnosis Adolescent Audiometry Craniofacial Abnormalities/diagnosis Ear, Middle/abnormalities Foot Deformities, Congenital/diagnosis Hand Deformities, Congenital/diagnosis Humans Intellectual Disability/diagnosis Joint Instability [researchportal.vub.be]

• Lacrimation

  GARD: 19 Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability [malacards.org]

  The proband had a fleshy nose, a prominant nose bridge, an hypoplastic midface, telecanthus with temporal displacement of puncta, lacrimal excretory obstruction. [pubmed.ncbi.nlm.nih.gov]

  The hallmarks of this syndrome are accessory nasal eyelid tissue with secondary displacement of the lacrimal puncta from the inner canthi, telecanthus, masklike faciès, bulky nose, torsion dystonia, and mental retardation. [semanticscholar.org]

  Telecanthus, epicanthus, lateral displacement of the lacrimal puncta, and lacrimal excretory obstruction are characteristic findings. Because of the weakness of the facial muscles, patients have a mask-like appearance. [accessanesthesiology.mhmedical.com]

• Dystonia

  Beneder LA, Kakonitz E: Heredopathic combination of a congenital deformity of the nose and of myoclonic torsion dystonia. J Nerv Ment Dis 91:608-624, 1940.Crossref 13. Eldridge R: Conference on torsion dystonias. [deepdyve.com]

  CNS torsion dystonia, increased deep tendon reflexes, Babinski reflexes, poor coordination and joint laxity. The proband's mother, brother and maternal grandfather also showed manifestations of the syndrome. [pubmed.ncbi.nlm.nih.gov]

  The hallmarks of this syndrome are accessory nasal eyelid tissue with secondary displacement of the lacrimal puncta from the inner canthi, telecanthus, masklike faciès, bulky nose, torsion dystonia, and mental retardation. [semanticscholar.org]

  80%) HP:0006101 9 underdeveloped nasal alae 58 30 Hallmark (90%) Very frequent (99-80%) HP:0000430 10 wide nose 58 30 Hallmark (90%) Very frequent (99-80%) HP:0000445 11 thickened skin 58 30 Hallmark (90%) Very frequent (99-80%) HP:0001072 12 torsion dystonia [malacards.org]

  Other notable featuresof BNFS lacking in the patient I described includelacrimal duct obstruction, displacement of the innercanthi, mental retardation, torsion dystonia, and jointlaxity. [fdocuments.in]

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]