Syndromes Flashcards
McCune-Albright syndrome
classic triad: Polyostotic fibrous dysplasia (FD), hyperfunctioning endocrinopathies, and cutaneous hyperpigmentation
New recommendations: MAS diagnosis defined as combination of FD and 1 or more extraskeletal features or presence of 2 or more extraskeletal features
Turners Syndrome
Monosomy X (45,X) Complete or partial deficiency of X chromosome
Imaging:
2nd-trimester findings
Cystic hygroma (CH) is hallmark finding
Often very large (multiloculated > uniloculated)
60% of fetuses with CH have Turner syndrome
Associated nonimmune hydrops is common
Must see fluid in 2 separate areas to diagnose hydrops
CH considered 1 of these areas
Hallmark cardiovascular defect is coarctation of aorta
Hypoplastic left heart if severe
Horseshoe kidney
Short femur and humerus
1st-trimester findings in > 90% of cases
Very large nuchal translucency measurements
CH ± hydrops can be seen early
> 5 mm often considered CH (± septations)
75% will have retrograde ductus venosus flow
Normal nasal bone seen
Edwards syndrome (trisomy 18)
Multiple anomalies is hallmark finding
Findings at time of nuchal translucency (NT)
↑ NT, absent nasal bone
Many anomalies are detectable at time of NT
2nd-trimester anomalies in almost all fetuses
Cardiac defects (90%)
Musculoskeletal anomalies (75%)
Clenched hand + overlapping index finger (50%)
Omphalocele, congenital diaphragmatic hernia, spina bifida, brain and facial anomalies, others
Markers are rarely isolated
Choroid plexus cysts (CPCs), single umbilical artery (SUA), strawberry-shaped calvarium, ↑ nuchal fold
3rd-trimester findings
Fetal growth restriction, polyhydramnios
Patau Syndrome (trisome 13)
Holoprosencephaly is hallmark finding Alobar, semilobar, lobar \+ associated facial anomalies Hypotelorism or cyclopia Nasal anomaly or proboscis Midline or bilateral cleft lip/palate Cardiac defects (80%) Hypoplastic left heart + intracardiac echogenic focus highly associated with trisomy 13 (T13) Enlarged echogenic kidneys (50%) Postaxial polydactyly (75%) Fetal growth restriction (50%) Early onset and progressive Findings at time of nuchal translucency (NT) screening ↑ NT, absent nasal bone Many key anomalies may be seen at this time
Li Fraumeni syndrome
Autosomal dominant familial cancer syndrome
70% of LFS have loss-of-function mutations in TP53 tumor suppressor gene
Most common in LFS tumor spectrum: Pediatric adrenocortical tumors, brain tumors, soft tissue sarcoma, osteosarcoma, breast cancer, leukemia
Turcot syndrome
Characterized by GI, CNS neoplasms 2 types Type 1 (TS1): Hereditary nonpolyposis colorectal cancer (HNPCC), a. k. a. Lynch syndrome Type 2 (TS2): Familial adenomatous polyposis (FAP)
Morquio syndrome
autosomal recessive mucopolysaccharidosis (MPS) type IV. platyspondyly hypoplasia of odontoid peg atlantoaxial subluxation os odontoideum anterior central vertebral body beaking round vertebral bodies
Hurler syndrome
one of the mucopolysaccharidoses (MPS type I).
Pyknodysostosis
Pyknodysostosis is a lysosomal disorder due to genetic deficiency in cathepsin K which has been mapped to chromosome 1q21. Cathepsin K is essential for normal osteoclast function.
short, stubby fingers partial agenesis/aplasia of terminal phalanges, simulating acro-osteolysis frontoparietal bossing calvarial thickening Wormian bones (lambdoidal region) vertebral body sclerosis increased lumbar lordosis vertebral segmentation anomalies particularly upper cervical (C1 and C2) and lower lumbar (L5 and S1) hypoplastic clavicles erosion of distal clavicles
Lhermitte-Duclos
Gangliocytoma of the cerebellum
Beckwith-Wiedemann syndrome
congenital overgrowth disorder characterised by a unique set of features that can consist of
macroglossia: most common clinical finding 4 ear pits or creases omphalocoele localised gigantism / macrosomia lateralised overgrowth (hemihypertrophy) cardiac anomalies pancreatic islet cell hyperplasia organomegaly nephromegaly hepatosplenomegaly
Budd-Chiari syndrome
clinical picture that occurs when there is partial or complete obstruction of the hepatic veins.
Patients with chronic Budd-Chiari syndrome are at risk for hepatocellular carcinoma (HCC) and therefore should be monitored with serum alpha-fetoprotein (AFP) 5
Tuberous Sclerosis
characterized by the development of multiple benign tumors of the embryonic ectoderm (e.g. skin, eyes, and nervous system)
The most common radiographic manifestations are:
cortical or subependymal tubers and white matter abnormalities
renal angiomyolipomas
cardiac rhabdomyoma(s)
Cowden syndrome
characterized by multiple hamartomas throughout the body and increased risk of several cancers
Testicular lipohamartomas are almost always associated with Cowden disease.
increased risk of cancers such as:
breast cancer: develops in 30-50% of those with the syndrome
thyroid cancer: develops in 5% of those with the syndrome, usually follicular
CNS: dysplastic cerebellar gangliocytoma, occurs when in association with Lhermitte-Duclos disease (LDD)
Meckel Gruber
Triad or
Renal cystic dysplasia
Occipital encephalocoele/holoprosencephaly (70%)
Polydactyly
Associated with
ventriculomegaly, agenesis of CC, Dandy walker malformation
Cardiac abnormalities
clubfoot, syndactyly, clinodactyly
