Category: Genetic

September 30, 2022

Genetics Corner: Menkes Disease in an Infant who Presented with Recurrent Infections
September 30, 2022

Fellow’s Column: Congenital Dislocated Nasal Septum
August 31, 2022

Genetics Corner: An Infant with a Right Congenital Diaphragmatic Hernia and a Small 15q26.3 Deletion with Loss of IGF1R
June 30, 2022

50th Genetics Corner: A Patient with CHARGE Syndrome Illustrates the Parable of the Six Blind Men and the Elephant
May 31, 2022

Clinical Pearl: A New Potential Biomarker for Sudden Infant Death Syndrome (SIDS): Butyrylcholinesterase
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