Syndromes Flashcards
TAR syndrome
= thrombocytopenia and absent radius
+ ASD or ToF
Features of Down’s syndrome
distal triradius
AVSD
Features of Turner’s syndrome
low hairline
coarctation of the aorta
Edward’s Syndrome
Trisomy 18
Bloods - LOW AFP, E3 and hCG
IUGR
Single umbilical artery
Defects - renal, cardiac (VSD, ASD, PDA), oesophagus, omphalocele
DD, growth retardation, arthrogryposis
Small head, prominent occiput
Low ears
Micrognathia
Cleft lip/palate
Upturned nose
Narrow palpebral fissues + hypertelorism (wide spaced eyes) + ptosis
Short sternum
Clenched hands + underdeveloped thumbs/nails
Choroid plexus cysts (seen on antenatal scans?)
Absent radius
Webbed 2nd/3rd toes
Undescended testes
Patau Syndrome
Trisomy 13
Cleft lip/palate Polydactyly, fingers overlapping thumbs Rocker-bottom feet Microcephaly, low ears Microphthalmia, cataract, nystagmus Meningomyelocele Omphalocele Severe DD Cutis aplasia (missing patches skin or hair) Abnormal genitalia -- severe cases may have one central eye +/- central probiscus rather than nose
Defects: cardiac (dextrocardia), neural (holoprosencephaly = failure of forebrain to divide), ocular (retinal dysplasia, optic nerve hypoplasia), renal
Single umbilical artery
Interpreting Amniocentesis
Edwards = everything LOW
High AFP and Ach-esterase = neural tube defect
High AFP alone also in abdominal wall defects, multiple pregnancy and APH
High hCG with low AFP and E3 = Down’s
Angelman syndrome
Chromosome 15 q12 deletion of maternal side
1 in 15,000
DD + LD, severe speech impairment
Epilepsy
Microcephaly
Happy, excited demeanor, hand flapping, laughter, water fascination, hyperactivity, less need for sleep
Coarse facial features, pale skin/hair, scoliosis
Normal life expectancy
Prader-Willi sydrome
Mental retardation + hyperphagia
Chromosome 15 q12 with deletion of paternal side
Dandy-Walker malformation
agenesis of the cerebellar vermis (cerebellar hypoplasia)
4th ventricular cyst
hydrocephalus
Joubert’s syndrome
vermis agenesis (cerebellar hypoplasia)
neonatal breathing disturbance
abnormal eye movements
Smith-Lemli-Opitz syndrome
dysmorphism
LD
low plasma cholesterol
cerebellar hypoplasia
Bardet-Biedl syndrome
disorder of cilia on cells
obesity + retinitis pigmentosa (night blindness) + polydactyly + hypogonadism
+/- renal failure +/- LD
B-B and L-M possibly now thought to be separate entities? BB fat and walking, LM paraplegic but thin
Laurence-Moon syndrome
AR ciliary disorder
retinitis pigmentosa, polydactyly, spastic paraplegia, hypogonadism, LD
B-B and L-M possibly now thought to be separate entities? BB fat and walking, LM paraplegic but thin
Fragile X Syndrome
tall, high-arched palate, long ears, long face, macro-orchidism
folate-sensitive fragile X site - Xq27.3
FMR1 mutation can be found on chorionic villus sampling
M = LD + facies F = 1/3 will have LD
