Results 151 to 160 of about 1,431,497 (181)

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

Oral healthcare in Fraser syndrome

Special Care in Dentistry, 2017
ABSTRACTFraser syndrome is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, syndactyly, and laryngeal stenosis. Oral manifestations are sparsely described in the literature, and patients with this syndrome might require special dental management considerations because of the associated cardiac, renal, and cognitive ...
Y, Hassona, H, Kharoub, C, Scully
openaire   +2 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

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

Mutations in GRIP1 cause Fraser syndrome

Journal of Medical Genetics, 2012
Background Fraser syndrome (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects. FS is a genetically heterogeneous condition. Thus far, mutations in FRAS1 and FREM2 have been identified as cause of FS. Both FRAS1 and FREM2 encode extracellular matrix
Vogel, Maartje J., van Zon, Patrick, Brueton, Louise, Gijzen, Marleen, van Tuil, Marc, Cox, Philip, Schanze, Denny, Kariminejad, Ariana, Ghaderi-Sohi, Siavash, Blair, Edward, Zenker, Martin, Scambler, Peter J., Ploos van Amstel, Hans Kristian, van Haelst, MM   +13 more
openaire   +4 more sources

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

Recent Progress in Lynch Syndrome and Other Familial Colorectal Cancer Syndromes

Ca-A Cancer Journal for Clinicians, 2018
Patrick Boland, Matthew B Yurgelun, Clement Richard Boland   +2 more
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