DYSMORPHOLOGY
WEBINARS
– VIDEOS – IMAGE GALLERIES – CAROUSELS - NOTIONS …
IMAGINATION GUSTATORY MAGIC TEST
TASTE and SAVOR FREE MIND OPENING IMAGES
Tango – Tangent - Syncope
Carousel - Effortless Dysmorphology Terminology -
12:37
Carousel - Spiritual - spirits – Alcohol – 08:07 min.
Game of Thrones non–Paternity – 35.00 min.
MORE …
DESCRIPTIVE DYSMORPHOLOGY
Basic
version in BLACK – Full version with extras in GREEN.
Comments and
Requests are welcomed
GLOBAL ASPECTS
NOTIONS and PROTOTYPES
SINGS – SIGNALS – SEMIOLOGY
DYSMORPHOLOGY PRACTICUMS
DYSMORPHOLOGY SYNTHESIS / DISCOVERIES
SHORT STATURE (an approach)
NEUROFIBROMATOSES
________________________________
NOTIONS and PROTOTYPES
INTRODUCTION
General
Concepts
Video
Tour
COMMENT:
Goals, objectives and
limitations
(Bi-lingual;
English, Ukrainian)
COMMENT: Essence
of Dysmorphology, Clinical Teratology and
Genetics.
SIGNS
– SIGNALS … SEMIOLOGY
(English, 17 min.; Ukrainian, 17 min.)
(English, 47 min.)
DYSMORPHOLOGY
PRACTICUM
DOWN SYNDROME VIRTUAL CLINIC VIDEOS
(Bi-lingual; English, Ukrainian)
GALLERY of Facies 23 min.
TEST YOUR PROFICIENCY !!! CLICK for self-test
DYSMORPHOLOGY
SYNTHESIS and DISCOVERIES
PROCESS from SIGN/SIGNAL/ETIOLOGY to SYNDROMES/DIAGNOSIS/PROGNOSIS
…
18q- NOVEL SYNDROME
(English, 28 min.)
COMMENT: demise of a dogma … story
of humanism/bonding.
DERMATOSPARAXIS NOVEL OBSERVATION
(English, 33 mins.; Ukrainian, 33 mins.)
COMMENT: observation in humans -
Gathering of signs free from existing diagnosis preconceptions
APPROACH TO SHORT STATURE (ST)
Prototype – ACHONDROPLASIA (ACH)
COMMENT: The subject is of central importance
– the optimal mode is to offer a series of links (some of the observations are
repetitive which to some degree is desirable).
Among initial approaches is to determine whether ST is:
- Congenital or emerged postnatally
- Proportional or disproportional
- Associated with other connective tissue anomalies (fractures, hernias, ocular
…)
(for additional clinical pearls search Clinical Eye Openers website contents
and consult standard formal reputable sources of information).
ACHONDROPLASIA (ACH) is among the most frequent congenital
disproportional short stature syndrome. Clinicians, regardless of their
specialty should be competent to recognize ACH. In essence, it is a fibro – chondro – skeletal – autosomal – dominant –
disorder - one
of the most common causes of disproportional short stature. The penetrance of the ACH
autosomal dominant gene mutation is
high (if you get the gene you get the manifestations). The degree of short stature may be moderate or severe (variability).
Connective tissue laxity in combination with disproportionally large head is
dangerous particularly during and after birth (apnea, cord injury …). Most
severe instances may be due to other genes mutations (achondrogenesis).
Most de-novo mutations are of paternal origin and reflect the impact of aging
(a Down syndrome, the association with maternal aging).
Once a clinician is sure that his patient DOES NOT represents ACH, the next
step is to consider alternatives. Below is a mixture of links to visually
intensive presentations (some repetitive), which may enhance cross comparisons.
People with short
stature call attention. Painters, sculptors and other artists underscore this
point. One reason to view artistic representations of “pigmies”, “dwarfs”,
“midgets”, “elfs” …, is that artist have trained their eyes to be sharp. For
millennia, artist have captured the key signs that today we recognize as
signals of particular categories of short stature disorders.
Take a look.
“1001 nights and days ago”
(or more) an artist created a mosaic of “pigmies”, “dwarfs”, probably
representing achondroplasia – links to 18 depictions – many by immortal
artists – their task was to insure that “it took only one look” for you to
remember forever.
Take another look.
“… Current fashion concerning
"short stature" persons is to avoid calling them "dwarf, elf,
midget ... etc.) and instead use the term "Little People. In any case, the
current fashion nor older terms do not solve the innacuracies implied in such
"labels" …”
Take a third look.
Another artistic repository, believe it or not, has to do with a Prince, a
Princess, their profound love. They had a lovely garden (Mirabell),
but it contained many statuettes of “dwarfs” and the Princess being
pregnant feared that looking at them would cause “birth defects” in her
baby ... and centuries later, the garden
and the dwarfs were featured in a film - “Sound of Music”, providing a stage for
Julie Andrews to sing.
Clinicians should like artist have
open clinical eyes. The videos and image galleries illustrate diversity of
individuals with short stature (somewhat repetitively, but in diverse
perspectives). The more you look the more you see and remember.
Video – short version – emphasis on ACH signs (semiology)
(English, 13:53 min.; Ukrainian, 13:50 min.)
Video – ACH variability and chronology of signs (2 videos)
(English, Video A: 12:57 min.; Video B: 13,53 min.)
Webinar and supplement – From signs, to signals, to diagnosis … Semiology
(English, 46:28 min. + Practicum supplement; Ukrainian, same time)
Gallery – images of 6
patients
Gallery – 11 images related to ACH
Gallery - Achondrogenesis
Gallery – Morquio
S – MPS IV – X-linked
COMMENT: the NF-1 syndrome is a highly
variable autosomal dominant manifestation of one of the largest and most
frequent gene mutations.
The
clinical spectrum is enormous. The gene penetrans
is variable, some individuals that inherit the mutations may
manifest minimal signs. Others may manifest signs before birth or as late as
puberty. Generally, the number of signs increases with time. Some signs maybe
stable, but others are progressive. NF-1 is a high cancer risk phenotype.
The complexity of NF-1 phenotype and its visual recognition, requires the
presentation of multiple links and clinical contents that occasionally
represent the same individuals although in different prospective.
Excluded from presentation are instances of NF-2 (central
neurofibromatosis – multiple primary ependymomas, gliomas, …). The NF-2
mutation is the result of a different gene mutation with a different locus from
NF-1.
NEUROFIBROMATOSIS PERIPHERAL or TYPE – 1 or NF-1
Gallery – NF-1 signs (42 images)
Gallery – NF-1 + Skin Morgan
angiomas - family
Gallery – NF-1 + Gynecomastia
+ Acromegaly + …
Video – Dramatic
visual emphasis on the aggressive destructive, regional, invasive nature
of plexiform neurofibromas.
(English, 48:52 min.; Ukrainian)
Video - Webinar – NF-1
diagnosis
(Ukrainian: 56 min.)
Video – short –
for educators - early skin signs
(mute, 01:46 min.)
Video – short
– for educators - early skin signs – left lower leg plexiform neurofibroma (?)
(mute, 02:29 min.)
Video – short – for educators – early facial plexiform
neurofibroma
(mute, 03:20 min.)
Video – short – for educators – advanced facial plexiform
neurofibroma, stage A
(mute, 05:54 min.)
Video – short – for educators – advanced facial plexiform
neurofibroma, stage B
(mute, 05:45 min.)
NEURO-CUTANEOUS MELANOSIS –
NEUROFIBROMATOSIS?
Gallery A – Neuro-cutaneous
melanosis – neurofibromatosis, type 1 NF-1 (?)
(6 images)
Gallery B – Neuro-cutaneous melanosis – neurofibromatosis, type 1 NF-1 (?)
(14 images)
Companion websites
Partners and Allies
