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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

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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.)
SEMIOLOGYpart 2
(English, 47 min.)
SEMIOLOGY one - two - three

DYSMORPHOLOGY PRACTICUM
DOWN SYNDROME VIRTUAL CLINIC VIDEOS
(Bi-lingual; English, Ukrainian)
Infants (Part 1)             14:00 min.
Infants (Part 2)             13 min.
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 …

(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)

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