TERATOLOGY - DYSMORPHOLOGY

MEDICAL TERMINOLOGY, VISUAL LITERACY, CLINICAL SENSE, and SENSITIVITY


OMNINET – MEDWORD  LLC.
TERATOLOGY – DYSMORPHOLOGY
MEDICAL TERMINOLOGY, VISUAL, CLINICAL, SENSE, SENSITIVITY
COURSES – TUTORIALS
TERATOLOGY - DYSMORPHOLOGY - INTRODUCTION

TERATOLOGY - DYSMORPHOLOGY - DESCRIPTIVE or TOPOGRAPHIC
DESCRIPTIVE

DOWN  SYNDROME


   Note: Trisomy 21 is a laboratory fact and NOT a clinical syndrome. 

  * Caveat: the emphasis of the following information concerns mostly clinical signs and signals. The contents are insufficient concerning additional other categories of  facts needed to establish a diagnosis and therapies. 

DOWN SYNDROME - 
ANTECEDENTS - HUMANITIES - VISUAL ARTS - ... 

         Facies by Gaugin
Sketch - characteristic facies 
Two similar facies drawn in 1515  
Etching - oral cavity too small for the tongue to fit
(Believe it or not Story) - from Gaugin to Drs. Down, "Mongolism", 
Darwin, Wallace, Mendel, Lejeune, Gautier, ... and the Pope of Rome - Video
 (11:05 min) 

History
"The Mongol in our Midst" - an arrogant racist insult – representation of
"Mongol-oid" Idiocy posed as a Buddha 
including per alopecia.  

Overviews
Signs - Signals (Semiology) - Tutorial video (16:57 min) 
Syndrome overview - Webinar video 
(20:50 min)
Galleries of still images
Hypotonia – A mandatory sign of Down syndrome - Tutorial video (19:30 min) 

Signs – Signals
Hypotonia, a virtually stigmatic sign (sine qua non) (AB)
Head – Brachycephaly (short, implies broad)
Facies Typicity and Variability (A, B, C. D, E, F, G)
Edema, a frequent neonatal sign
Brushfield Iris spots of a typical pre-puberal girl with Down syndrome
Eyelid – Ectropion
Peri-ocular – Epicanthic folds
Pseudo high arched palate – Torus Palatinus
resulting from lack of tongue molding the palate –
Cheilitis – probably resulting from chronic open mouth and small oral cavity
resulting in intermittent tongue protrusion combined with generalized muscular hypotonia.
Tongue – Scrotal, Fissured
Peri-oral - normal lips, philtrum and Cupid’s bow.
Hand and fingers – Dysmorphic - Simian palmar flexion crease - 
clinodactyly of the 5th finger – brachydactyly
an excess of “white lines” or mini-creases
(white because fingerprinting ink would not penetrate these creases) –
Note: images are NOT from a patient with Down Syndrome
An indication that signs often are NOT specific to syndromes and can represent “phenocopies”.

Clinical Videos Practicum Series
Infant A – Dysmorphic signs labeled - Video (04:53 min)
Infant B – Dysmorphic signs labeled - Video (06:11 min)
Infant C – Dysmorphic signs labeled - Video (04:54 min) 
Baby A – Dysmorphic signs labeled - Video (04:46 min) 
Baby B - Video (01:39 min)
Child A - Video (04:19 min)
Child B  Dysmorphic signs labeled - Video (04:34 min)
Child C - Video (02:28 min) 
Adult  Dysmorphic signs labeled - Video (02:40 min) 

       Tutorial Discussion of the Video Practicum Series 
Part 1 - Video (14:11 min)
Part 2 - Video (13:32 min) 
Part 3 - Video (11:49 min) 

Pseudo Down Syndrome – Differential Diagnosis – Phenocopies
Patient with a complex partial autosomal chromosome deletion
The illustrated anomaly may be associated with a higher cancer risk syndrome (13q-)
             

Video (30:37)
*** missing??? Check https://ceo.medword.net/?tutorials=part-2-of-dysmorphology-basics-a

DIAGNOSIS – MANAGEMENT – LIMITED INFORMATION
Please see CAVEAT* shown at the start of this page

RESOURCES for CLINICIANS - HEALTH CARE PROVIDERS – PARENTS
(The websites shown are mostly Universities, Scientific reports, Parental Support Groups, Not for Profit Foundations, and similar)
http://www.ibis-birthdefects.org/start/dsfact.htm