Results 151 to 160 of about 20,731 (178)

Fraser syndrome with laryngeal webs: Report of two cases and a review of the literature

International Journal of Pediatric Otorhinolaryngology, 2015
Fraser syndrome is a rare genetic disorder characterized by cryptophthalmos, syndactyly and laryngeal atresia. Although laryngeal webs occur uncommonly, they are the main cause of death in the first week of life in these patients.
Farzad Izadi, Aslan Ahmadi, Hosna Zobairy   +2 more
exaly   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Fraser-Cryptophthalmos syndrome

The Indian Journal of Pediatrics, 2000
Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a "hidden eye", other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia.
M, Kabra, S, Gulati, M, Ghosh, P S, Menon   +3 more
openaire   +2 more sources

Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

American Journal of Medical Genetics, Part A, 2007
Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. We studied the clinical features in 59 affected individuals from 40 families (25 consanguineous), and ...
Mieke M Van Haelst, Peter J Scambler
exaly   +3 more sources

PRENATAL DEATH IN FRASER SYNDROME

Fetal and Pediatric Pathology, 2005
Cryptophthalmos may be partial or complete, unilateral or bilateral, apparently nonsyndromal or syndromal. A recent study of 2 stillborn infants at the University of Utah prompted an analysis of the developmental aspects of the syndromal form (Fraser syndrome).
Jessica M, Comstock, Angelica R, Putnam, John M, Opitz, Theodor J, Pysher, Juliana, Szakacs   +4 more
openaire   +2 more sources

Molecular study of 33 families with Fraser syndrome new data and mutation review

American Journal of Medical Genetics, Part A, 2008
Fraser syndrome (FS) is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract.
E Monti, K Pearce, Peter J Scambler
exaly   +2 more sources

ENT manifestations of Fraser syndrome

The Journal of Laryngology & Otology, 1992
AbstractFraser Syndrome is a rare autosomal recessive disorder (Gupta and Saxena, 1962; Smith, 1982). The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis), as ...
G R, Ford, R M, Irving, N S, Jones, C M, Bailey   +3 more
openaire   +2 more sources

Syndrome de Fraser

Journal Français d'Ophtalmologie, 2006
Le syndrome de Fraser est un syndrome genetique malformatif rare dont les principales manifestations sont une cryptophtalmie, des syndactylies, une atresie laryngee et des malformations urogenitales. Nous rapportons l′observation d′un nouveau-ne, issu d′un mariage consanguin, admis au service a J1 de vie pour un syndrome malformatif.
B. Allali, M. Hamdani, H. Lamari, L. Rais, M. Benhaddou, A. Kettani, D. Lahbil, A. Amraoui, K. Zaghloul   +8 more
openaire   +1 more source

DIAGNOSTIC ECHOGRAPHIC FINDINGS IN CRYPTOPHTHALMOS SYNDROME (FRASER SYNDROME)

Prenatal Diagnosis, 1997
We report two male siblings with cryptophthalmos syndrome (Fraser syndrome), an autosomal recessive multiple malformation syndrome with cryptophthalmos, abnormal genitalia, and syndactyly of the fingers and toes as major clinical symptoms. Renal anomalies (uni- or bilateral agenesis) occur in 85 per cent. In the second trimester of both pregnancies (at
J P, Fryns, D, van Schoubroeck, K, Vandenberghe, H, Nagels, P, Klerckx   +4 more
openaire   +2 more sources

Fraser syndrome

2011
Yuranga Weerakkody, Andrew Murphy, Matt Morgan   +2 more
openaire   +1 more source

Pulmonary hyperplasia in Fraser syndrome

Pediatric Pulmonology, 1992
A, Labbé, P, Dechelotte, D, Lemery, G, Malpuech   +3 more
openaire   +2 more sources