Syndromes

Question 1

Holt Oram

Answer 1

AD
absent thumb, radial club hand
cardiac abn

Question 2

Fanconi anemia

Answer 2

AR-DNR repair genes
dx: mitomycin C
hypoplastic thumb, absent radii, cafe au lait spots
lethal pancytopenia, short, genital abn, microcephaly

Question 3

TAR (thrombocytopenia absent radii

Answer 3

no radii

neonatal thrombocytopenia

Question 4

Roberts

Answer 4

tetraphocomelia

brain, craniofacial abn

Question 5

VACTERLS

Answer 5

Vertebral abn
Anal atresia
Cardiac abn
TEF
Renal/Radial abn
Limb abn
Single umbilical artery

Question 6

Mobius

Answer 6

CN VI, VII palsy–cannot move facial muscles or eyes laterally
Oligodactyly (missing fingers), club feet, syndactyly

Question 7

Treacher Collins

Answer 7

AD
mandibulofacial dystosis
bilateral Tessier clefts 6,7,8
bilateral microtia, absent/hypoplastic zygotes, orbital clefts, down slanting palpebral fissures, micrognathia

Question 8

Goldenhar

Answer 8

oculoauricularvertebral syndrome (OAVS)
hemifacial microsomia
microtia
epibulbar dermoids, vertebral anomalies
renal anomalies

Question 9

Nager

Answer 9

AR
hypoplastic thumb/radius
facial anomalies similar to treacher collins
may have absent soft palate

Question 10

Trisomy 21

Answer 10

MR

brachycephaly

Question 11

holoprosencephaly

Answer 11

incomplete separation of the sides of the brain

hypotelorism, mesoderm deficiency in the midline

Question 12

Parry Romberg

Answer 12

progressive hemifacial atrophy
CNV distribution, coup de sabre lesion
Neurologic/cranial abn

Question 13

CHARGE

Answer 13

coloboma
heart
atresia (choanal) -- paradoxical cyanosis
retarded growth
genital hypoplasia
ear abn

Question 14

Binder

Answer 14

maxillonasal dysplasia
lack of anterior nasal spine
midface hypoplasia
induced by coumadin

Question 15

Klippel Feil

Answer 15

low posterior hairline
short neck
cervical or other spine fusion

Question 16

McCune Albright

Answer 16

AD
defect ca/phos metabolism
polyosteotic fibrous dysplasia, precocious puberty, cafe au lait

Question 17

Pfeiffer

Answer 17

AD, FGFR 1/2
coronal suture, sometimes cloverleaf
down slanting palpebral fissures, hypertelorism
short/wide thumbs

Question 18

Crouzon

Answer 18

AD, FGFR 2
bicoronal
chiari, midface hypoplasia
acanthosis nigrans

Question 19

Apert

Answer 19

AD, FGFR 2
bicoronal 
acne
pansyndactylies of hands/feet
MR

Question 20

Muenke

Answer 20

AD, FGFR 3
bicoronal or unicoronal
hearing loss
Brachydactyly, abn middle phalanges

Question 21

Saethre Chotzen

Answer 21

AD, TWIST
coronal, metopic
low hairline, flat forehead
ptosis, syndactyly
renal disease

Question 22

Carpenter

Answer 22

AR, RAB23
lambdoid, sagittal
MR
low ears
short webbed fingers, duplicated big toes
MS/GU/CV defects

Question 23

Antley-Bixler

Answer 23

AR, FGFR2
coronal, lambdoid
fused radiohumeral joint