Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Cardiac involvement (CI) in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects. A genotype-phenotype correlation with organ involvement has not yet been described.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either environmental or genetic. Disruption of any one of multiple biological processes, such as those underlying neurogenesis, cell cycle and division, DNA repair or transcription regulation, can result in microcephaly.

Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.

We describe the clinical characteristics of two patients with cat-eye syndrome (CES, MIM #115470) resulting from a supernumerary marker chromosome that includes 22pter-q12.3. They both presented a constellation of features typical of CES, including coloboma, auricular malformations, heart and renal anomalies, as well as hepatic dysfunction, which led to severe effects.