Category: Genetic

May 31, 2022

Genetics Corner: Klippel-Trenaunay Syndrome in an Infant with a Mosaic PIK3CA Variant, a Target for the Medical Treatment of Asymmetric Overgrowth
April 30, 2022

Genetics Corner: Syndromic Etiology of Apparently Isolated Clubfeet: a Child with Loeys-Dietz Syndrome
March 31, 2022

From Mom to Baby: Antibodies and Infant Health
March 31, 2022

Genetics Corner: Donohue Syndrome in a Small for Gestational Age Infant with Hyperinsulinemia
February 28, 2022

Abstracts from the California Association of Neonatologists Cool Topics in Neonatology 27th Annual Conference
February 28, 2022

Genetics Corner: Alpha Thalassemia X-Linked Intellectual Disability Syndrome in an Infant with Developmental Delay and DYS Recurrent Respiratory Failure Confirmed by Whole-Exome Sequencing
January 31, 2022

Clinical Pearl: Evaluation of Stillbirth Among Pregnant People with Sickle Cell Trait
January 31, 2022

Infant Health Matters: Raising the Profile of Rare Diseases
January 31, 2022

Genetics Corner: “Coat-hanger” ribs and Bell-Shaped Thorax in an Infant with Paternal Uniparental Disomy for Chromosome 14
December 31, 2021

Genetics Corner: Cat-Eye-Syndrome and Genetic Syndromes Associated with Ear Anomalies
September 30, 2021

Genetic Corner: Diaphragmatic Hernia in an Infant with a Type II Distal Deletion of 22q11.2 (LCR22E-F)
September 30, 2021

Fellows Column: Caloric Restricted Diets Anxiolytic Effect on Progeny
August 31, 2021

The Genetics Corner: A Mother and Child with Cleft lip and Palate Have an Atypical 1p36 Deletion that Disrupts KIF1B, a Cause of Autosomal Dominant Charcot-Marie-Tooth Disease, Type 2A1
May 31, 2021

The Genetics Corner: Avoiding the Need for Cardiac Transplant – Everolimus Induced Regression of a Cardiac Tumor in an Infant with Tuberous Sclerosis Complex (TSC) Type 2 with Updates on his Progress
April 30, 2021

The Genetics Corner: Pathogenic variants in DOCK6 mimic congenital viral infection in an SGA infant with VSD and intracranial calcifications