5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... GH stimulates liver ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... or refractory cases
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
paediatrician or geneticist ... the abdomen, the liver ... intra-abdominal masses ... #Examination #Peds ... #Pediatrics #Diagnosis
Hepatopulmonary Syndrome - Illness Script
HPS is a pulmonary disorder of chronic liver disease characterized by a
Hepatopulmonary Syndrome ... abnormalities PATHOPHYSIOLOGY ... arteriovenous shunting causes ... of orthodeoxia CLINICAL ... cirrhosis #diagnosis #hepatology