Dysmorphology
Dysmorphology
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Watch
Stem
Bag
Visualise
START WATCH
Introduction
IWS
IPEP
Ex
Interpret
CGH array
Karyotype
Syndromes
Wash
Watch
Stem
Bag
Visualise
- initial then ?short stature/tall/macroceph....
START WATCH
Introduction
IWS
IPEP
Ex
- Inspection
- Equipment
- Well
- Obs
- Growth and puberty
- Short stature (Turner, Noonan, Russell Silver, Williams, skeletal dysplasias)
- Tall stature (Marfan, Homocystinuria, Klinefelter, Sotos)
- Obesity (Prader Willi, Bardet Biedl)
- Delayed puberty (Turner, Klinefelter)
- Other Obvious
- Neurocutaneous stig, pigmentation
- Café au lait: NF‐1, Fanconi Anaemia, McCune‐Albright
- Scars
- Neurocutaneous stig, pigmentation
- Dysmorphology
- Morphologic features
- Size, shape, symmetry
- they resemble their parents, distinctive/trait/feature not dysmorphic
- Front and back Hands > Head > Chest > Abdo > Legs (Size, shape, symmetry)
- Hand (Size, shape, symmetry)
- Nails
- Fingers length/shape/webbing
- Palmar creases
- Radial ray anomaly (Fanconi anaemia, VACTERL, TAR, Blackfan Diamond)
- Arms (Size, shape, symmetry)
- Segments
- Hypermobility
- Head (Size, shape, symmetry)
- Fontanelle
- Sutures
- Hair (quality, quantity)
- Upper third
- hair line
- forehead
- Eyes
- spacing
- lids, palpebral fissure (opening between lids) length (short FAS) / slant (down in T21)
- sclera, iris, pupils
- Midface
- Nose (Size, shape, symmetry)
- Bridge, tip, nostrils, philtrum
- Ears (Size, shape, symmetry)
- position, rotation, tags, creases
- Nose (Size, shape, symmetry)
- Lower third (Size, shape, symmetry)
- philtrum, lips, teeth, gums, palate, uvula, tongue, jaw
- Cleft: 22q11 deletion, Stickler
- Neck
- Webbed
- Chest (Size, shape, symmetry)
- Inspection (sternum, nipples)
- Auscultation (Cardiology)
- AS: Williams, PS: Noonan, Williams, Alagille
- AVSD/Conotruncal: 22q11 deletion, trisomy 21
- Aortic dilation: Marfan, Ehlers Danlos
- Does it hurt > Palpation
- Percussion
- Abdomen (Size, shape, symmetry)
- Inspection (scars, hernias)
- Auscultation
- Does it hurt > Palpation (organs)
- Percussion
- Legs (Size, shape, symmetry)
- As for arms
- Curvature
- Footwear
- Gait
- ? Genitalia
- Boys: phallus, scrotum and testes (size, development, descent) i
- Girls: the labia in girls
- Pubertal development
- Position of the anus.
- ?Vision
- ?Hearing: (Goldenhar, CHARGE, Waardenburg, Treacher Collins, Alport, NF‐2)
- ?Ophthalmoscopy
- ?Development
- ?Neurology
- Hand (Size, shape, symmetry)
Interpret
- I was asked to see X, an Xyo, and examine their X
- I found...
- Can you comment on inheritance pattern
- Should time permit I would also like to examine... look for causes other causes of finding, and other thing findings may cause
CGH array
Karyotype
Syndromes