Congenital Anomalies

Question 1

A well characterized constellation of major & minor anomalies occurring together in a predictable fashion

Answer 1

Syndrome

Question 2

Group of related anomalies arising from a single major anomaly that alters the development of surrounding and/or relate structures

Answer 2

Sequence

Question 3

Transient oligohydramnios –>u-shaped cleft palate, micrognathis, retrgnathia, ear anomalies and oligohydramnios sequence

Answer 3

Pierre Robin sequence

Complicated by Stickler syndrome: blindness due to high myopia

Question 4

Group of anomalies occuring more frequently together than chance, but not predictable and no unifying etiology

Answer 4

Association:

CHARGE

MURCS

Question 5

What is CHARGE association/syndrome?

Answer 5

Coloboma

Heart defects

Atresia choanei

Retarted growth/development

Ear anomalies

Question 6

What is MURCS association?

Answer 6

Mullarian duct aplasia, renal aplasia, cervicothoracic somite malformation

Question 7

Abnormal form or position of body part, caused by extrinsic forces; late in pregnancy

Answer 7

Deformation

E.g. Potter-type facies due to oligohydramnios

Question 8

Early developmental process with complex and far-reaching consequences, high rate of recurrence in future pregnancies

Answer 8

Malformation:

E.g. alobar holoprosencephaly

Question 9

Abnormalities resulting from intrinsic cellular architecture not maintained throughout growth

Answer 9

Dysplasia

E.g. short stature

Question 10

Describe features of fetal alcohol syndrome:

Answer 10

Telecanthus, absent philtrum, thin vermilion boarder.

Also variable holoprosencephaly –> cyclopia, cleft palate, single maxillary central incisor, microcephaly, flat face, hypotelorism

Question 11

What is this? 20% of these cases are associated with what syndrome?

Answer 11

20% of situs inversus cases are associated with Kartagener syndrome (ciliopathy)

Question 12

What is this and what is the most common associated cause?

Answer 12

Caudal dysgenesis

MC ass’n: uncontrolled maternal diabetes (not gestational)

Also accomanied by other malformations - e.g. malrotation of gut

Question 13

What is this and what is the most common associated cause?

Answer 13

Sirenomelia - insult at 3-4 weeks gestaton –> insufficient mesoderm

MC ass’n: uncontrolled maternal diabetes (not gestational)

Question 14

Defects resulting from extrinsic insult inteferring with normal development

BQ: what are the 6 major causes?

Answer 14

Disruption

1. vascular; 2. anoxic; 3. teratogenic; 4. infection; 5. radiation; 6. amniotic bands

Question 15

What are the 3 major overgrowth syndromes?

Answer 15

1. Beckwith-Wiedemann
2. PTEN mutated (Bannayan-Riley-Ruvalcaba, Cowden, Proteus)
3. Elejalde syndrome (fibroblast rapid growth)

Question 16

Infant with silvery-metallic hair, patchy hypopigmentation and profound primary neurologic defects

Answer 16

Elejalde syndrome:

Associated with MYO5A.

Question 17

What are the PTEN syndromes?

Answer 17

Bayannan-Riley-Ruvalcaba syndrome

Cowden syndrome

Proteus syndrome

Question 18

6 yo old with this lesion: