Rp: Genetics - Genetic Birth Defects

Front 1

By week ___ of development, the palate begins to form, and it is completed by week ___.

Are most cases of cleft-lip/palate syndromic or nonsyndromic?
- what findings can suggest syndromic?

Back 1

6; 12.

nonsyndromic (70%)
- Known maternal environmental exposure. growth parameters (height, weight, head circumference) and ask about developmental milestones and cognitive functioning. Look carefully for minor or major anomalies. Abnormal findings in any of these areas can suggest the possibility of a syndromic instead of a non-syndromic cleft.

Front 2

What is the recurrence risk of cleft lip w/ or w/o cleft palate for:
- identicle twin?
- sibling?

Is non-syndromic cleflip/palate caused by one factor or is it multifactorial?

Back 2

40%
3-5%

multifactorial, only ~15% has a single gene etiology w/incomplete penetrance.

Front 3

What is the mean life expectancy of a Tri13 baby?
- associated abnormalities?

Back 3

130d; 86% die during the first year.
- Microcephaly, scalp defects, clefts, microphthalmia, polydactyly, cardiac defects, renal anomalies

Front 4

What is another name for Wolf-Hirschhorn syndrome?

Back 4

4p minus syndrome
- Poor growth
Dysmorphic features
Cleft lip/palate
Heart defects
Mental retardation

Front 5

Besides clefts, what are some other signs of 22q deletion syndrome?

Back 5

conotruncal ht defects, hypocalcemia, immune dysfunction (T-cells), learning disabilities/psych dz.

Front 6

What dz that can cause cleft palate, lip pits, and/or cleft lip often presents with very subtle clues?
- mode of inheritance?
- due to mutation in which gene on which q?

Back 6

Van der Woude syndrome
- autosomal dominant w/ variable expression
- IRF6 gene on 1q.

Front 7

Characterized by cleft palate, congenital joint contractures, club feet, hypotonia and susceptibility to malignant hyperthermia with anesthesia... what is this?
- genetic inheritance mode?

Back 7

- native american (lumbee) myopathy
- autosomal recessive

Front 8

What is characterized by micrognathia (small jaw), glossoptosis (tongue falls back & obstructs airway), and cleft palate (usually U-shaped)?
- causes?
- what is the most common *syndromic* cause of Robin sequence?
+ cause?
+ associated issues?

Back 8

Robin Sequence
- anything that restricts mandibular growth
- Stickler syndrome
+ mutation in one of the collagen genes (locus heterogeneity)
+ myopia/retinal detachment, hearing loss, arthropathy.

Front 9

Mental retardation is IQ<?
- mild?
- moderate?
- severe?
- profound?

The most common cause of mental retardation is...

Back 9

IQ <70
Mild 50-70
Moderate 35-50
Severe 20-35
Profound <20

..unknown(30%) > chromosomal (15%)

Front 10

Which neuroimaging test if best for mental retardation?
- which is better for craniosynostosis and calcifications?

Back 10

MRI, in general.
- CT.

Front 11

Williams syndrome includes distinctive facial features, hypercalcemia, supravalvular aortic stenosis, and pulmonary artery stenosis. What gene is defective?
- are most cases de novo deletions?

Back 11

Elastin gene (ELN), deletion 7q11.23
- yes