craniofacial syndromes

Question 1

ear anomalies, epibulbar dermoids, facial and mandibular hypoplasia, and vertebral anomalies.

Answer 1

Goldenhar syndrome (oculoauriculovertebral dysplasia)

Question 2

IRF6 gene mutation in chromosome 1

Answer 2

van der Woude

Question 3

Hypodontia (as high as 86%), high arched palate, lip pits, syngnathia, and ankyloglossia; Autosomal dominant

Answer 3

van der Woude

Question 4

polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots

Answer 4

McCune-Albright

Question 5

Cardiac abnormalities, renal issues, immune deficiencies, speech and feeding delays, mental health issues, developmental delay, cleft palate, and calcium regulation disturbances

Answer 5

22q11.2 deletion

Question 6

retrognathia, glossoptosis

Answer 6

Pierre-Robin sequence

Question 7

FGFR2

Answer 7

Apert

Question 8

TCOF

Answer 8

Treacher-Collins

Question 9

mandibular dysostosis, hypoplasia of the zygoma, maxilla, and mandible, downward slanting of the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes, and auricular defects.

Answer 9

Treacher-Collins

Question 10

22q11.2 deletion

Answer 10

DiGeorge syndrome, velocardiofacial syndrome, and Shprintzen syndrome

Question 11

bicoronal craniosynostosis leading to turribrachycephaly, mid face hypoplasia, and complex hand and foot syndactyly

Answer 11

Apert

Question 12

autosomal dominant disorder, craniosynostosis involving the coronal, sagittal, and lambdoid sutures, as well as turribrachycephaly. mid face hypoplasia, exorbitism, and proptosis

Answer 12

Crouzon

Question 13

Hemifacial atrophy; depressed linear scar extending down through the mid face on the affected side “coup de sabre”

Answer 13

Romberg syndrome

Question 14

Ranges from mild facial asymmetry and microtia to a severe asymmetry of the orbit and mid and lower faces. Vertebral, cardiac, and renal malformations, VPI

Answer 14

Hemifacial microsomia

Question 15

atypical bone development and skin overgrowth

Answer 15

proteus syndrome

Question 16

Congenital fusion of any two of the seven cervical vertebrae.short neck, low occipital hairline, and restricted mobility of the upper spine

Answer 16

Klippel-Feil syndrome

Question 17

incomplete merging of the mandibular and maxillary prominences of the first pharyngeal arch

Answer 17

Tessier cleft #7

Question 18

left palate, velopharyngeal insufficiency, and cardiac abnormalities. Abnormal facial features associated with this syndrome include a broad, prominent nose, malar flattening, epicanthal folds, retrognathia, and vertical maxillary excess.

Answer 18

velocardiofacial syndrome

Question 19

tessier clefts

Answer 19

#1-4 medial to infraorbital nerve
#5-6 lateral to infraorbital nerve
#7 lateral mouth
#8 lateral eye
#9-13 upper eyelid
#14 upper midline face

Question 20

Cleft palate syndromes

Answer 20

Apert, Treacher-Collins, Stickler

Question 21

failure of fusion of the maxillary and medial nasal process

Answer 21

cleft lip

Question 22

Failure of fusion of the medial nasal process with the maxillary prominence on both sides

Answer 22

bilateral cleft lip

Question 23

failure of fusion of lateral palatine process and medial palatine process

Answer 23

complete unilateral cleft palate