11 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Signs and Symptoms of Respiratory Distress Through the Years. 

#signs #symptoms #diagnosis #differential #neonatal #pediatrics #adult
Signs and Symptoms ... #diagnosis #differential ... #neonatal #pediatrics ... #adult #peds #pulmonary ... respiratory #distress #causes
The Febrile Child - some diagnostic clues to evaluating the febrile child.

#Febrile #Fever #Evaluation #Assessment #Signs
Febrile Child - some diagnostic ... clues to evaluating ... Assessment #Signs #Symptoms ... #PhysicalExam #Diagnosis ... #Peds #Pediatrics
Causes of Acute Pediatric Cough - Differential Diagnosis Algorithm
No Fever, No Tachypnea
 - Normal Chest Auscultation
Causes of Acute ... Pediatric Cough ... - Differential Diagnosis ... Bronchitis - No URTI Symptoms ... #Peds #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... - Differential Diagnosis ... Syndromic • Genetic ... #Algorithm #Causes ... #Peds #Pediatrics
Assessment of the Child with Chronic Asthma
Are there other allergic disorders?
 - Allergic rhinitis
 - Eczema,
Other causes should ... and frequency of symptoms ... Asthma #Assessment #diagnosis ... #peds #pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Syndrome is a rare genetic ... disorder, caused ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Mendelian genetic ... #Hypertension #Causes ... #Secondary #diagnosis ... differential #age #pediatrics ... #peds
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... intra-abdominal masses ... #Examination #Peds ... #Pediatrics #Diagnosis