Results 111 to 120 of about 2,852 (190)

Case Report: A rare coexistence with severe aortic root dilatation and nutcracker phenomenon in pediatric Marfan syndrome. [PDF]

Front Pediatr
Qiao X, Chen Y, Su D, Shang L, Pang Y.
europepmc   +1 more source

Aortic Aneurysm Associated with Arachnodactyly [PDF]

BMJ, 1951
openaire   +2 more sources

Arachnodactyly

, 2017
Michael Schwenk, John H. Duffus, Douglas M. Templeton   +2 more
core   +1 more source

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder. [PDF]

Am J Med Genet A
Bradbrook SM, Graham G, Carter MT, Kibaek M, Fagerberg C, Larsen MJ, Dawson K, Meuter C, Pepler A, Besnard T, Vincent M, Isidor B, Bezieau S, Cogne B, Bjørgo K, Amundsen SS, Courtin T, Emrick L, Rosenfeld JA, Weisz-Hubshman M, Undiagnosed Diseases Network, Mak BC, Martinez-Agosto J, Heulin M, Morin G, Keren B, Schutz S, Monin P, Pujalte M, Januel L, Lesca G, Valence MB, Margot H, Levy J, Iovino E, Isidori F, Pippucci T, Montanari F, Bell L, Burton J, Torti E, Wentzensen IM, Marcadier J.   +42 more
europepmc   +1 more source

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies. [PDF]

J Family Med Prim Care
Agrawal PK, Dev S, Panda SK, Yadav SS, Srivastava A.   +4 more
europepmc   +1 more source

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights. [PDF]

Hum Genome Var
Kido J, Ueno H, Misumi Y, Sugawara K, Saito S, Koshimizu E, Matsumoto N, Ueda M, Nakamura K.   +8 more
europepmc   +1 more source

A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report. [PDF]

Front Pediatr
Almabyouq FJ, Abualsaud ZF, Alabbas RMA.
europepmc   +1 more source

Brittle cornea syndrome: Integrating unique presentations and novel management options.

Oman J Ophthalmol
Balakrishnan J, Bari A, Maharana PK, Agarwal T, Dada T, Sharma N.   +5 more
europepmc   +1 more source

Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome. [PDF]

Genes (Basel)
Stathori G, Koniari E, Vlachakis D, Papanikolaou E, Chrousos GP, Yapijakis C.   +5 more
europepmc   +1 more source

Perioperative Care of a Pediatric Patient With Beals Syndrome. [PDF]

J Med Cases
Wrona A, Holladay J, Tobias JD.
europepmc   +1 more source