Craniofacial

Question 1

What is the order in which fissures close to form the lips? When should they have all fused?

Answer 1

1. frontonasal
2. left maxillary
3. left mandibular
4. right mandibular
5. right maxillary
   should all have fused by 60 days

Question 2

True or false: bilateral cleft lip/palate is more likely to be a syndrome than unilateral

Answer 2

False! equally likely to be syndromic

Question 3

What factors impact the recurrence risk for cleft lip/palate?

Answer 3

-severity of trait
-number of affected relatives
-sex of person (i.e. when it is a female with cleft lip/palate, chance is higher)
-how closely related individual is

Question 4

What are the known causes of syndromic cleft lip/palate?

Answer 4

chromosomal anomalies
>300 Mendelian syndromes
teratogens
uncategorized syndromes

Question 5

What are the clinical symptoms of Van der Woude syndrome? Gene? Inheritance pattern?

Answer 5

lip pits
popliteal pterygium syndrome (webbing behind the knees) sometimes
autosomal dominant; IRF6

Question 6

What are the clinical features of Wolf-Hirschhorn syndrome?

Answer 6

growth retardation
microcephaly
cleft lip and/or palate
hypotonia
intellectual disability

Question 7

What are clinical features associated with oto-palato-digital syndrome?

Answer 7

short stature, cleft palate, hearing loss, limb anomalies
X-linked; FLNA

Question 8

What are the features associated with Robin sequence?

Answer 8

micrognathia, glossoptosis, cleft palate

Question 9

What are clinical features of Stickler syndrome?

Answer 9

most common syndrome associated with Robin sequence
autosomal dominant
myopia, retinal detachment, hearing loss, hypotonia, hyperestensible joints, talipes equinovarus, arthropathy/arthritis, spondyloepiphyseal dysplasia