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