Results 81 to 90 of about 2,852 (190)

A case of arachnodactyly [PDF]

Archives of Disease in Childhood, 1939
openaire   +2 more sources

Acute myeloblastic leukemia-associated Marfan syndrome and Davidoff-Dyke-Masson syndrome: a case report

Turkish Journal of Hematology, 2008
We present herein a 23-year-old man with acute myeloblastic leukemia (AML) associated with Davidoff-Dyke-Masson syndrome (DDMS) and Marfan syndrome (MS).
Ahmet Faik Öner, Imdat Dilek, Ali Bay, Cengiz Demir   +3 more
doaj  

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature

Italian Journal of Pediatrics
Background Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1).
Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede   +8 more
doaj   +1 more source

Marfan syndrome with acute abdomen: a case report

International Journal of General Medicine, 2010
Beyazit ZencirciKahramanmaras Sutcu Imam University Medical Faculty, Department of Anesthesiology and Reanimation Kahramanmaras, TurkeyIntroduction: Marfan syndrome is an autosomal dominant connective tissue disorder characterized by a combination of ...
Beyazit Zencirci
doaj  

arachnodactyly

Citation: 'arachnodactyly' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10423 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for commercial
openaire   +1 more source

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

BACKGROUND AND OBJECTIVES: Blindness-scoliosis-arachnodactyly syndrome has been described in a family with parental consanguinity. We present the strategy employed to determine the gene locus responsible for the syndrome.
Tekin, M, Orenay-Boyacioglu, S, Dundar, M   +2 more
core  

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene

The Turkish Journal of Pediatrics, 2012
We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery.
Esra Kiliç, Yasemin Alanay, Eda Utine, Burçe Ozgen-Mocan, Peter N Robinson, Koray Boduroğlu   +5 more
doaj  

Arachnodactyly in a Bantu child.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2000
No Abstract.
openaire   +2 more sources

Arachnodactyly

, 2019
Roland Warner, Abdus Sattar, Patrick Rock   +2 more
openaire   +1 more source

Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy. [PDF]

JCEM Case Rep
Jin A, Bhatnagar A, Bryant A, Soe K.
europepmc   +1 more source