Category: Genetic

January 31, 2024

Genetics Corner: A Premature Infant with Meconium Peritonitis Inspires an Update on the First Cases of In Utero Therapy for Meconium Ileus Due to Cystic Fibrosis
December 31, 2023

Genetics Corner: A New Case of Rubinstein-Taybi Syndrome with a Novel Variant in the CREBBP Gene Detected through Whole Exome Sequencing
December 31, 2023

Fellows Column: Early Identification of PURA Syndrome in a Neonate: Implications on Diagnosis and Management
November 30, 2023

Genetics Corner: An infant with a CHARGE-like syndrome and dual diagnoses: Xq28 duplication and Exon 38/39 KMT2D Missense Variant syndrome
October 31, 2023

A Newborn with Difficult Intubation Diagnosed with Treacher Collins Syndrome and Detection of a Novel Pathogenic Variant in TCOF1
October 31, 2023

Role of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency and Altered Redox Status in Racial Disparities of Neonatal Outcomes: An Innocent Bystander or Unaccused Accomplice?
September 30, 2023

A Newborn with Cloverleaf Skull and Sacrococcygeal Eversion due to a Rare FGFR2-Related Craniosynostosis Disorder: Beare-Stevenson Syndrome
August 31, 2023

Genetic Corner: Two Different Unbalanced Translocations of 15q and 21q in Dizygotic Twins Presenting with Differing Phenotypes
August 31, 2023

A Review of Infantile Hemangiomas
June 30, 2023

Genetics Corner: Sleep-Disordered Breathing in a Term Newborn with Achondroplasia
April 30, 2023

Genetics Corner: PHACES Syndrome in an Infant with Segmental Facial Hemangiomas and Stridor
February 28, 2023

Genetics Corner: HACD1-Associated Congenital Myopathy in an Infant of Chaldean Ethnicity.
January 31, 2023

Genetics Corner: Familial Duodenal Atresia Due to Feingold Syndrome
December 31, 2022

Genetics Corner: Mild Expression of COL7A1-Associated Epidermolysis Bullosa in a Mother and Child
November 30, 2022

Genetics Corner: A Neonatal Case of Shwachman-Diamond Syndrome with Prominent Skeletal Anomalies Diagnosed by Whole Exome Sequencing