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Efcab7 deletion sensitizes mice to the teratogenic effects of gastrulation-stage alcohol exposure.
Reprod Toxicol
December 2024
Bowles Center for Alcohol Studies, University of North Carolina, Chapel Hill, NC, United States; Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC, United States; Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, United States. Electronic address:
Alcohol exposure during the gastrulation stage of development can disrupt Sonic hedgehog (Shh) signaling and cause eye, craniofacial, and brain defects. One of the genes that regulates Shh signaling is Efcab7, which encodes a protein that facilitates the actions of Smoothened (Smo), a critical component of the Shh pathway. Previous work from our lab has demonstrated that Efcab7 is differentially expressed between two sub-strains of C57BL/6 mice that differ in their sensitivity to gastrulation-stage alcohol exposure.
View Article and Find Full Text PDFCHARGE syndrome in a child with a variant and a novel pathogenic variant: A case report.
Clin Pediatr Endocrinol
October 2024
Department of Pediatrics, Tohoku University Hospital, Sendai, Japan.
CHARGE syndrome is a clinically heterogeneous condition that typically presents with a loss-of-function mutation in . SOX2 anophthalmia syndrome is a rare condition associated with hypogonadism and hearing loss. Herein, we describe the case of a Japanese boy presenting with a micropenis, bilateral cryptorchidism, cupped ear, right facial nerve palsy, and bilateral hearing loss, clinically meeting the diagnostic criteria for CHARGE syndrome, but with optic nerve hypoplasia, which is atypical for the syndrome.
View Article and Find Full Text PDFPrenatal Ultrasound Diagnosis of Congenital Diaphragmatic Hernia in a Fetus With Fryns "Anophthalmia-Plus" Syndrome: A Case Report.
Cureus
August 2024
1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, GRC.
Article Synopsis
- * A new case of Fryns "anophthalmia-plus" syndrome was diagnosed in a 41-year-old pregnant woman, showing serious fetal conditions through ultrasound at 22 weeks of gestation.
- * Following genetic counseling and the absence of chromosomal abnormalities, the parents decided to terminate the pregnancy due to the severe issues identified.
Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report.
SAGE Open Med Case Rep
August 2024
Department of Pediatrics and Child Health, College of Health Science, Mekelle University, Tigray, Ethiopia.
Article Synopsis
- - Goltz syndrome is a rare genetic condition caused by a mutation in the PORCN gene on the X chromosome, leading to skin thinning and fat herniation, which causes both skin and systemic issues.
- - A newborn with Goltz syndrome showed various abnormal symptoms, including missing one eye (anophthalmia), a cleft lip, herniated fat under the skin, and split foot, along with kidney and heart abnormalities.
- - The baby was hospitalized for treatment of neonatal sepsis, and the family was provided counseling about the syndrome's implications due to its rarity and complexity.
A 3-month-old male infant with Goldenhar syndrome: A clinical case report from Woldia, Northeast Ethiopia.
SAGE Open Med Case Rep
August 2024
Department of Pediatrics and Child Health, College of Medicine and Health Sciences, Woldia University, Woldia, Ethiopia.
Article Synopsis
- Goldenhar syndrome is a congenital condition affecting structures from the first and second pharyngeal arches, characterized by facial asymmetry and other anomalies.
- A 3-month-old male with Goldenhar syndrome was diagnosed after being born to a mother receiving antiretroviral therapy and had no family history of birth defects.
- The infant presented with respiratory issues and severe pneumonia, and he is currently receiving multidisciplinary care for both his immediate health needs and potential management of Goldenhar syndrome.
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