Clinical Dysmorphology
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Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Charlotte Pickwick ◽  
Bert Callewaert ◽  
Fleur van Dijk ◽  
Juliette Harris ◽  
Emma Wakeling ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Phenotypic Spectrum

Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Paola Sabrina Buonuomo ◽  
Gerarda Mastrogiorgio ◽  
Paolo Alfieri ◽  
Alessandra Terracciano ◽  
Claudia Cesario ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Behavioral Phenotype ◽  
Clinical Description

Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Blanca E. Ríos-González ◽  
Jessica F. Rodríguez-Ortiz ◽  
Anna G. Castro-Martínez ◽  
María T. Magaña-Torres ◽  
Patricio Barros-Núñez
Keyword(s):  
Molecular Characterization ◽  
Costello Syndrome ◽  
Mexican Patients

Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Amita Moirangthem ◽  
Deepti Saxena ◽  
Suzena Masih ◽  
Arya Shambhavi ◽  
Mayank Nilay ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase

Angelman syndrome with a 15q11q13 deletion in a mother and daughter

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Shannon Bell ◽  
Kameryn M. Butler ◽  
Kathryn T. Drazba ◽  
Jennifer Lynch ◽  
Fatima E. Abidi ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Mother And Daughter

Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Ozlem Ozkale Yavuz ◽  
Adalet Elcin Yildiz ◽  
Ustun Aydingoz
Keyword(s):  
Condylar Fracture

A further case of Skraban-Deardorff syndrome and review of the literature

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Sze Wing Shirley Cheng ◽  
Ho-Ming Luk ◽  
Fai Man Ivan Lo
Keyword(s):  
Review Of The Literature

A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Haiyan Zhu ◽  
Yuanyuan Chen ◽  
Yanyan Niu ◽  
Yunshan Zhang ◽  
Lei Chen
Keyword(s):  
Male Fetus ◽  
Novel Variant ◽  
Robinow Syndrome

Silver–Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Monserrat Paz-Ramírez ◽  
Linda B. Muñoz-Martínez ◽  
Ariadna B. Morales-Jiménez ◽  
Verónica F. Morán-Barroso ◽  
Constanza García-Delgado ◽  
...  
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
De Novo ◽  
Silver Russell Syndrome
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