1491 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... infantile failure to thrive ... #PraderWilli #Syndrome
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
Leigh Syndrome ... delay, failure to thrive ... MarkMamloukMD #Leigh #Syndrome
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
BEE Syndromes - ... manifestations due to three ... recessive—Usher syndrome ... MS • Other • Syndromes ... aura #BEE #Syndromes
Thrombocytopenia and Pregnancy - TTP/HUS, HELLP Syndrome and Acute Fatty Liver of Pregnancy (AFLP)
Three syndromes in
TTP/HUS, HELLP Syndrome ... Pregnancy (AFLP) Three ... syndromes in the
Brugada syndrome Types 1, 2 and 3

There are three types of ECG presentations, referred to as
Brugada syndrome ... 3 There are three ... type 3 Brugada syndrome ... type 1 Brugada syndrome ... type 3 Brugada syndrome
Myelodysplastic Syndromes (MDS)

What?
Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly
Myelodysplastic Syndromes ... Myelodysplastic syndromes ... one, two, or all three ... dysplasia: Two or three ... blasts: Any of the three
Causes of Failure to Thrive - Differential Diagnosis Algorithm
Adequate Calorie Consumption
 - Increased Losses:
of Failure to Thrive ... Disorders • Syndromes
One and a Half Syndrome on Physical Exam

This 28 year old patient presented to clinic with
One and a Half Syndrome ... One and a Half Syndrome ... IV steroids for three ... Three weeks later ... OneAndAHalf #One #Half #Syndrome
Congenital Long QT Syndrome: Illness Script

Who?
 - Kids or young adults, usually < 30
 - high
Congenital Long QT Syndrome ... repolarization • Three ... Congenital #LongQT #Syndrome
Sweet Syndrome

Acute febrile neutrophilic dermatosis (Sweets Syndrome) is a skin condition characterized by fever and inflamed
Sweet Syndrome ... dermatosis (Sweets Syndrome ... classical Sweet syndrome ... lesions by one to three ... - Schnitzler’s syndrome