Syndromes to Know Flashcards
1
Q
CHARGE Association
A
Omphalocele Cardiac Anomaly Holoprosencephaly Cleft palate Micrognathia IUGR Genital hypoplasia
2
Q
Chromosome 18 p
A
Holoprosecphaly
Hypotelorism
Club foot
3
Q
47 XXY
A
Cystic hygroma
4
Q
Corelia de Lange Syndrome
A
Cardiac abnormality Dandy Walker Cyst Microcephaly Short nose Abnormal thumb Absent digits Absent limbs Clinodactyly Radial hypoplasia Short limbs Hydrops IUGR
5
Q
Cru di Chat
A
Microcephaly Micrognathia Cardiac malformation Facial abnormalities Hypoplastic cerebellum Increased NT
6
Q
Fanconi syndrome
A
Cardiac abnormality
Abnormal thumb
Absent digits
Radial aplasia
7
Q
Fetal infections findings
A
Echogenic area in abdomen Cardiac mass ACC Cerebellar hypoplasia Dandy Walker cyst Echogenic brain foci Microcephaly Mild ventriculomegaly Cataract Microphthalmia hydrops IUGR
8
Q
Fetal warfarin
A
Nasal hypoplasia
Rhizomelic shortening
IUGR
Stippled epiphysis
9
Q
Harlequin Icthyosis
A
Open mouth with large tonge
Amniotic fluid debris
Clenched or fixed hands
10
Q
Holt Oram Syndrome
A
Cardiac abnormality Abnormal thumb Absent digits Absent limbs Clinodactyly Radial hypoplasia
11
Q
Hypophosphatasia
A
Small chest Easily seen brain Bowing Moderate to severe bone shortening Hydrops IUGR Diffuse hypomineralization
12
Q
Marden Walker Syndrome
A
Micrognathia
Hypertelorism
Joint contractures
Renal cystrs
13
Q
Maternal PKU
A
Cardiac abnormality
Microcephaly
Cleft palate
14
Q
Noonans syndrome
A
Cardiac abnormality--mostly pulmonary stenosis Hypertelorism Cystic hygroma Cryptorchidism Hemivertebrae
15
Q
Otocephaly
A
Hypoplasia of mandible and tongue
Very severe micrognathia
Polyhydramnios
absence of stomach
