Primary Pulmonary Hypoplasia With Congenital Alveolar Dysplasia Associated With TBX4 Gene Deletion: A Case With Autopsy and Molecular Findings

Primary Pulmonary Hypoplasia With Congenital Alveolar Dysplasia Associated With TBX4 Gene Deletion: A Case With Autopsy and Molecular Findings

In this episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold (@MArnold_PedPath) and Dr. Jason Wang speak with Dr. Tetyana Nesterenko, Neonatologist in the Division of Neonatal-Perinatal Medicine at UT Southwestern Medical Center, affiliated with Dallas Children's Hospital; Dr. Evelyn Ilori, Hematopathology Fellow at UT Southwestern; Dr. Christine Kahlow, PGY-3 Resident at UT Southwestern; and Dr. Charles Timmons, Pediatric Pathologist and faculty at UT Southwestern, based at Children's Medical Center.

Hear how a multidisciplinary team at UT Southwestern approached a full-term neonate's unexplained, rapidly fatal respiratory failure, from the resuscitation and family communication in the NICU to an autopsy that uncovered severe pulmonary hypoplasia and congenital alveolar dysplasia. A standard genetic sequencing panel came back normal, but chromosomal microarray analysis revealed the true cause: a deletion encompassing the TBX4 gene. We discuss the collaboration of their team to identify TBX4 haploinsufficiency at autopsy, and their article in Pediatric and Developmental Pathology:

Primary Pulmonary Hypoplasia With Congenital Alveolar Dysplasia Associated With TBX4 Gene Deletion: A Case With Autopsy and Molecular Findings

Featured public domain music: Summer Pride by Loyalty Freak

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Jaksot(26)

Standardized Placental Pathology Reporting: Improving Quality and Clinical Utility Recommendations From the Society for Pediatric Pathology Placental Pathology Reporting Task Force

Standardized Placental Pathology Reporting: Improving Quality and Clinical Utility Recommendations From the Society for Pediatric Pathology Placental Pathology Reporting Task Force

In this episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold (@MArnold_PedPath) and Dr. Jason Wang speak with Dr. Sanjita Ravishankar, a Pediatric, Perinatal, and Gy...

28 Elo 42min

Perspectives 2026: Placenta Pathology

Perspectives 2026: Placenta Pathology

In this special episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold (@MArnold_PedPath) and Dr. Jason Wang speak with Dr. Bev Rogers of the University of Arizona and...

10 Heinä 42min

Exploring the Impact and Prospects of Social Media in Advancing Pediatric Pathology

Exploring the Impact and Prospects of Social Media in Advancing Pediatric Pathology

In this episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold (@MArnold_PedPath) and Dr. Jason Wang speak with Dr. Sonja Chen (X: @IslandJewelsena, LinkedIn: Sonja Ch...

19 Kesä 28min

Intervillous Thrombus Is Independently Associated With Placental Infarct and Single Umbilical Artery as well as Fetal Inflammatory Response

Intervillous Thrombus Is Independently Associated With Placental Infarct and Single Umbilical Artery as well as Fetal Inflammatory Response

In this episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold (@MArnold_PedPath) and Dr. Jason Wang speak with Dr. Peilin Zhang, a Pathologist at Sharp Memorial Hospi...

22 Touko 39min

Epididymal melanotic neuroectodermal tumor of infancy misdiagnosed as paratesticular rhabdomyosarcoma

Epididymal melanotic neuroectodermal tumor of infancy misdiagnosed as paratesticular rhabdomyosarcoma

In this episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold (@MArnold_PedPath) and Dr. Jason Wang speak with Dr. Manas Kalra, a Pediatric Oncologist in the Departme...

24 Huhti 39min

Fusion-negative Rhabdomyosarcoma: Clinical Application of Targeted RNA Sequencing

Fusion-negative Rhabdomyosarcoma: Clinical Application of Targeted RNA Sequencing

In this episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold (@MArnold_PedPath) and Dr. Jason Wang speak with Dr. Aida Glembocki, a Pediatric Pathologist and Masters...

23 Helmi 34min

A Novel GLCCI1::BRAF Fusion With Independent MYC and MYCN Amplifications in Pediatric Pancreatic Acinar Cell Carcinoma

A Novel GLCCI1::BRAF Fusion With Independent MYC and MYCN Amplifications in Pediatric Pancreatic Acinar Cell Carcinoma

In this episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold (@MArnold_PedPath) and Dr. Jason Wang speak with Dr. Lauren Miller (@LJMiller_MD), a 4th year AP/CP Path...

23 Tammi 31min

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