Dysmorphology

Question 1

define dysmorphology

Answer 1

the scientific study of the structure and form of animal and plants.

Question 2

when are congenital malformatlities more likely to be genetically when they are isolated or when they are numerous.

Answer 2

multiple malformations, dysmorphic and family history of similar problems.

Question 3

what 3 methods are used in determining sysphorphology

Answer 3

gestalt- pattern of recognition
start at the top and then work down
absence of features and the presence of features

Question 4

what dysmorphology does the 22q11.2 deletion cause

Answer 4

learning disabilities, Velopharyngeal insufficiency,
improper closing of the velopharyngeal sphincter, heart defects, hypocalcemia, seizures, immune deficiency and renal malformation, thin nose with no flare at the end.

Question 5

what is the most common cause of achondroplasia

Answer 5

new mutation

Question 6

is achondroplasia more commonly autosomal dominate or recessive

Answer 6

autosomal dominant.

Question 7

what are the dysmorpholoical changes in achondroplasia

Answer 7

rhizomelic limb shoretning
short stature
foramen magnum compression and hydrocephalus
trident hand- angles between digits abnormal

Question 8

what condition is commonly a result of imprinting problems

Answer 8

Beck with- Wiedemann.

Question 9

what are the dysmorpholoical changes in Beck with- Wiedemann.

Answer 9

large tongue
ear pits and creases
red patches on the skin
exopthlos- weakness of the baby’s abdominal wall where the umbilical cord joins it.
Hemihypertrophy- one side of the body or a part of one side is larger than the other.
neonatal hypoglycaemia
Increased risk of Wilms tumour (nephroblastoma)- malignant tumour of the kidney.

Question 10

what is the comments chromosomal disorder

Answer 10

down syndrome

Question 11

what are the dysmorpholoical changes in downs syndrome

Answer 11

learning difficulties, congenital heart disease, hypotonia (low muscle tone ) in neonates, single palmar crease, sandal gap, spots in eyes, cataracts, hearing impairments, hypothyroidism, leukaemia,
Atlanto- axial instability- excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or ligamentous abnormality.
Alzheimer’s disease- all people with Down syndrome get Alzheimer’s.

Question 12

In whichtype of translocation for downs syndrome is recurrence huh and which is low
non disjunstion
robertsonian tanslocation

Answer 12

Non dis- junction translocation- the risk of reoccurrence is low.

Robertsowian translocation- the risk of reoccurrence is high.

Question 13

what dysmorpholoigcal signs does kabuki present with

Answer 13

learning difficulties, congenital heart diseases, poor growth, eversion of eyelid, hearing impairment, cleft palate, premature breast development, persistent fetal finger pads.

Question 14

what is Peutz-Jeghers syndrome

Answer 14

Gastrointestinal polyps
• Bleeding
• Obstruction- block bowel.

Question 15

what cancer causes Pigmentation on and around lips (small brown dots).

Answer 15

Peutz-Jeghers syndrome

Question 16

what malignancies is Peutz-Jeghers syndrome associated with

Answer 16

• Colorectal
• Gastric
• Pancreatic
• Breast
• Ovarian

Question 17

what inheritance is treacher collins syndrome

Answer 17

Autosomal dominant.

Question 18

what is the dysmorphic feature of treacher collins syndrome.

Answer 18

• Cleft palate.

* Hearing impairment.

Question 19

what dysmorpholoical features does Waardenburg syndrome present with

Answer 19

• Sensorineural hearing impairment.
• Iris heterochromia- black line around pupil(difference in pupil coloration)
• Premature greying.
• White forelock.
• Areas of hypopigmentation.
• Congenital malformations-

Question 20

what is the position of the mutation in williams syndrome

Answer 20

• 7q11 deletion.

Question 21

what dysmorphologicla symptoms does will ams present with

Answer 21

•	Learning difficulties
•	 “ Cocktail party speech”- can have a basic conversation without knowing they have the syndrome, only when you have a complex conversation can you tell.
Congenital heart disease.
o	Supravascular aortic stenosis.
o	Peripheral pulmonary artery stenosis.
•	Hypercalcaemia.
•	Struggle with spatial awareness.

Question 22

Gestalts looks for patterns of abrnomality is which body parst

Answer 22

digits and hands and feet
ears
lips

Question 23

what abnormalities are found in the Digits, Hands and feet

Answer 23

• Ectrodactly-missing thumb/ thumb abnormalities- associated with missing radius.
• Adducted thumb.
• Syndactly- 2 thumbs/fingers stuck together.
• Deep planter creases- key to trisomy 21.

Question 24

what abnormalities are found in the ear

Answer 24

• Attached
• Lobes
• Pits.
• Creases.

Question 25

what abnormalities are found in the lips

Answer 25

• Increased cupid’ bow (upper lip is more curved)- often teeth pop out.
• Thin lips.

Question 26

SLO- Smith-Lemli-Opitz syndrome consists of what 3 features

Answer 26

• Microcephaly
• Tiny chin
• Developmental delay.

Question 27

how to determine trisomy 21 from ear level in comparison to the eye level.

Answer 27

• Typically the eyes should be in the same plane.
• The ears should leave the head in this plane and hence 1/3 of the ear should be above the plane and 2/3 would be below.

Question 28

what factor increases the risk of achondroplasia

Answer 28

increased paternal age

Question 29

when are dysmorphologies best diagnosed

Answer 29

in children.