A familial syndrome of cranial, facial, oral and limb anomalies

Autor: Apostolos Papageorgiou, Naomi Fitch, Sigrid Jequier

Publikováno v: Clinical Genetics. 10:226-231

A family is described in which two male infants have microcephaly, abnormal ears, anti-mongoloid slant, small mouth, cleft palate, flexed overlapping fingers with syndactyly of digits three and four, syndactyly of the second to the fifth toes, and no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8ccaa1cf661551dc9bb0b59d46a665
https://doi.org/10.1111/j.1399-0004.1976.tb00039.x

Ablepharon-Macrostomia syndrome--extension of the phenotype

Autor: Elaine H. Zackai, James A. Katowitz, Mieke M. van Haelst, Scott P. Bartlett, Staci Kallish, Donna M. McDonald-McGinn

Publikováno v: Kallish, S, McDonald-McGinn, D M, van Haelst, M M, Bartlett, S P, Katowitz, J A & Zackai, E H 2011, ' Ablepharon-Macrostomia syndrome--extension of the phenotype ', American Journal of Medical Genetics Part A, vol. 155A, no. 12, pp. 3060-2 . https://doi.org/10.1002/ajmg.a.34287
American Journal of Medical Genetics Part A, 155A(12), 3060-2. Wiley-Liss Inc.
American journal of medical genetics. Part A, 155A(12), 3060-3062. Wiley-Liss Inc.

AblepharonMacrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e89b373836f6cbf2f168b67edffdb8a
https://doi.org/10.1002/ajmg.a.34287

Middle Ear Pathology Can Affect the Ear-Canal Sound Pressure Generated by Audiologic Earphones

Autor: William T. Peake, Saumil N. Merchant, Aaron R. Thornton, John J. Rosowski, Christopher A. Shera, Susan E. Voss

Publikováno v: Ear and Hearing. 21:265-274

Objective To determine how the ear-canal sound pressures generated by earphones differ between normal and pathologic middle ears. Design Measurements of ear-canal sound pressures generated by the Etymtic Research ER-3A insert earphone in normal ears

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a96794a6887ac1455ee93841eb83dc4
https://doi.org/10.1097/00003446-200008000-00001

Congenital Shortening of the Anterior Lamella of All Eyelids

Autor: F C Guimaraes, Antonio Augusto Velasco e Cruz, Francisco Eulógio Martinez, Victor Evangelista de Faria Ferraz, Thelma R. Noce, Habib Nahmatalah Obeid

Publikováno v: Ophthalmic Plastic & Reconstructive Surgery. 11:284-287

The so-called ablepharon macrostomia syndrome is an extremely rate congenital condition that includes abnormal ears, an enlarged, fishlike mouth, absence of lanugo, redundant skin, and vertical shortening of all eyelids. Only four cases have been des

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820d82100c955e27841b7ee3de740984
https://doi.org/10.1097/00002341-199512000-00012

De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects

Autor: Hugo C. Galindo, Chahira Kozma, Jeanne M. Meck, Karen J. Loomis

Publikováno v: American Journal of Medical Genetics. 41:446-450

We describe an apparent de novo duplication of bands 17p11.2 and p12. A comparison of the manifestations of a previously reported case with a similar karyotype [Magenis et al., Am J Med Genet 24:415-420 (1986)] and of our own case seems to indicate a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5511051e6ab4b6fdc19c7097083e558b
https://doi.org/10.1002/ajmg.1320410413