genetic counseling

The X-ray provides medical professionals with valuable insights into the skeletal manifestations of this condition, showing the absent cranial vault and other associated skeletal features that accompany this profound neural development disorder.

Anencephaly is one of the most severe neural tube defects compatible with life until birth, characterized by the absence of a major portion of the brain, skull, and scalp. The image depicts an anencephalic newborn in profile view, illustrating the distinctive craniofacial features associated with this condition. Anencephaly results from failure of the rostral (head) end of the neural tube to close during embryonic development, typically between the 23rd and 26th day of gestation. This devastating congenital anomaly is universally fatal, with most affected newborns surviving only hours to days after birth. Understanding the characteristic physical manifestations, underlying pathophysiology, and available management options is essential for healthcare professionals involved in perinatal and neonatal care.

Anencephaly is a severe congenital birth defect characterized by the absence of major portions of the brain, skull, and scalp. The image shows an anterosuperior view of an anencephalic fetus, demonstrating the distinctive facial features and cranial abnormalities that define this condition. This devastating neural tube defect occurs during early embryonic development when the neural tube fails to close properly at the cranial end, resulting in the absence of significant portions of the brain, particularly the cerebrum and cerebellum. Despite these profound structural abnormalities, the brainstem and spinal cord often remain intact, allowing for basic physiological functions in affected fetuses.

West Syndrome, also known as infantile spasms, is a rare but severe form of age-dependent epileptic encephalopathy that typically manifests in infancy. This devastating condition is characterized by the triad of infantile spasms, hypsarrhythmia on EEG, and developmental regression. Early recognition and prompt intervention are crucial for optimizing outcomes in affected infants.

In pediatric radiology, encountering rare anatomical variations alongside acute respiratory conditions presents unique diagnostic challenges. Situs inversus totalis, a congenital condition where major visceral organs are reversed from their normal positions, requires careful interpretation of radiological findings, particularly when complicated by acute respiratory infections. This case study examines a 3-month-old male patient presenting with significant respiratory symptoms and the radiological implications of this anatomical variation.

Favism is a genetic disorder that causes a severe reaction to consuming fava beans (also known as broad beans) and certain medications. This inherited condition occurs due to a deficiency in an enzyme called glucose-6-phosphate dehydrogenase (G6PD), which leads to the breakdown of red blood cells when exposed to specific triggers.

Understanding rare genetic conditions is crucial for healthcare providers and families alike. ARTX syndrome, also known as ATRX syndrome or Alpha-Thalassemia X-Linked Intellectual Disability syndrome, is a rare genetic condition that primarily affects males. This comprehensive guide explores the causes, symptoms, diagnosis, and management options for individuals living with ARTX syndrome.

Adams-Oliver Syndrome (AOS) is a rare congenital disorder characterized by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects. Named after...