Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Acrocephaly"'
Autor:
Andrea Avendaño, Michele Callea, Özgül M. Alper, Ercan Mihci, Francisco Cammarata-Scalisi, Elanur Yilmaz
Publikováno v:
Boletín Médico del Hospital Infantil de México. 76
Background Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Case report Two unrelated female patients with clinical findings of Apert syndrome-charact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03509486e0bcc422fea34564f649c90f
https://doi.org/10.24875/bmhim.18000053
https://doi.org/10.24875/bmhim.18000053
Autor:
Tuba Tülay Koca
Publikováno v:
Northern Clinics of Istanbul
Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa8bd733e439ecfc45a1e450938afb2e
http://europepmc.org/articles/PMC5206464
http://europepmc.org/articles/PMC5206464
Autor:
Francisco Javier Álvarez Guisasola, Elena Urbaneja Rodríguez, Rebeca Garrote Molpeceres, José Luis Hernanz Sanz, María Asunción Pino Vázquez, Hemenegildo González García
Publikováno v:
Case Reports in Perinatal Medicine. 5:151-155
Acrocephaly is a common neonatal craniofacial malformation. Saethre-Chotzen syndrome (SCS) is one of the acrocephaly related syndromes less frequently described in the literature. A female newborn term was admitted to our Neonatal Unit to study crani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2abe45e1106835df34cf776c16b6c47a
https://doi.org/10.1515/crpm-2015-0057
https://doi.org/10.1515/crpm-2015-0057
Autor:
Klein D, Franceschetti A
Description of 3 cases of identical twins affected by concordant oxycephaly. In the first case, one of the twins had a son who was likewise afflicted by a typical scaphocephaly. In the second case, both children showed also a convergent concomitant s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37fd04e7fa4298209edf950bec6a4f6c
http://doc.rero.ch/record/297841/files/S1120962300042372.pdf
http://doc.rero.ch/record/297841/files/S1120962300042372.pdf
Autor:
Taner Hafızoğlu, Gurkan Kayabasoglu, Mehmet Karacan, Hayrunnisa Bekis Bozkurt, Yasemin Gunduz, Bahri Ermis
Publikováno v:
NeoReviews. 15:e45-e48
A female newborn presents with abnormalities on her hands, feet, cranium, and face. ### Prenatal and Birth Histories ### Presentation The infant has an atypical appearance characterized by midfacial hypoplasia, craniosynostosis, a cone-shaped calvari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::609d4e9264557b371346d4a86d3911f8
https://doi.org/10.1542/neo.15-1-e45
https://doi.org/10.1542/neo.15-1-e45
Publikováno v:
International Journal of Clinical Pediatric Dentistry
In this article, an interesting case of Apert syndrome in a 14-year-old boy with characteristic craniosynostosis, acrocephaly, midface hypoplasia, pharyngeal attenuation, ocular manifestations, and syndactyly of the hands and feet is presented. The c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d262da9452cf3bfc9c75f7da1dcc36
http://europepmc.org/articles/PMC4086543
http://europepmc.org/articles/PMC4086543
Publikováno v:
Clinical Dysmorphology. 7:185-189
WOS: 000074640200005 PubMed: 9689991 Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de2a4ba6abf899c8ae88afdcf224c78
https://doi.org/10.1097/00019605-199807000-00005
https://doi.org/10.1097/00019605-199807000-00005
Autor:
László Bognár, Andrea Nagy, Beáta Bessenyei, Alida C. Knegt, László Novák, Erzsébet Balogh, Éva Oláh
Publikováno v:
American journal of medical genetics. Part A, 161(10), 2641-2644. Wiley-Liss Inc.
We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3be3c313b85d343d11654e28d7400924
https://pure.amc.nl/en/publications/achondroplasia-with-multiplesuture-craniosynostosis-a-report-of-a-new-case-of-this-rare-association(7dbcc474-612f-4705-a4ae-2bd8187461df).html
https://pure.amc.nl/en/publications/achondroplasia-with-multiplesuture-craniosynostosis-a-report-of-a-new-case-of-this-rare-association(7dbcc474-612f-4705-a4ae-2bd8187461df).html
Autor:
G. V. Coppa, R. Rossi, Pierluigi Giorgi, V. Bonifazi, O. Gabrielli, Ciferri L, R. Lanza, Ugo Salvolini
Publikováno v:
Neuroradiology. 35:109-112
A morphological analysis of the corpus callosum has been carried out in an MRI study of 34 children with malformative syndromes and 35 normal children. We used a new morphometric method based on measurement of five specific angles. Values outside the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43aec9eee1a6a45270b8f19095185cb7
https://doi.org/10.1007/bf00593965
https://doi.org/10.1007/bf00593965
Autor:
A.L. Peter
Publikováno v:
American journal of ophthalmology. 29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78dc5fc9c4f12c9fb29c3fd4e7f62699
https://pubmed.ncbi.nlm.nih.gov/20986519
https://pubmed.ncbi.nlm.nih.gov/20986519