MEDICAL TERMINOLOGY, VISUAL, CLINICAL, SENSE, SENSITIVITY
COURSES – TUTORIALS
TERATOLOGY - DYSMORPHOLOGY - INTRODUCTION
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) (A, B)
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