A5051980481- Cell Adhesion Molecules Research
- Parathyroid Disorders and Treatments
- Digestive system and related health
- Electrolyte and hormonal disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Hemoglobinopathies and Related Disorders
- Immunodeficiency and Autoimmune Disorders
- Bone and Joint Diseases
- Vitamin D Research Studies
Centro Hospitalar de Lisboa Ocidental
2020-2022
Homozygous Epidermal Growth Factor Receptor (EGFR) mutation is associated with neonatal inflammatory skin and bowel disease type 2. We present the case of a preterm female infant severe growth restriction complex clinical course. She presented from birth erosive lesions as well several malformations (sparse scalp hair, craniofacial abnormalities, thin long limbs, arachnodactyly, absence subcutaneous fat, arthrogryposis congenital heart disease). developed recurrent respiratory infections,...
Hypocalcaemia in neonates can range from asymptomatic to a potentially life-threatening condition. We present case of 36 weeks gestational age boy, admitted our neonatal intensive care unit for jitteriness, mild hypotonia and breastfeeding difficulties. By the ninth day life, he presented with late-onset hypocalcaemia, hypomagnesaemia, low 25-OH-vitamin D inappropriately normal parathyroid hormone. Further investigation revealed maternal hypercalcaemia high Maternal hyperparathyroidism was...