Peds -- Syndromes

Front 1

Beckwith-Wiedemann syndrome

Back 1

- Omphalocele (present in 90% of pts)
- Wilms tumor (present in 90% of pts)
- Macroglossia
- Gigantism
- Pancreatic hyperplasia with hypoglycemia
- Tumors (all the "-blastoma" tumors)- pancreatoblastoma, medulloblastoma, neuroblastoma

Front 2

What is Scimitar syndrome?

Back 2

Scimitar syndrome consists of:
1. Hypoplasia or aplasia of one or more lobes of the right lung.
2. Partial anomalous pulmonary venous return below the diaphragm into the IVC, RA, hepatic vein, or portal vein.
3. Absent or small pulmonary artery.
4. Occasional rib and vertebral body anomalies (hemivertebrae).

Front 3

WAGR Syndrome

Back 3

Wilms' tumor, Aniridia, Genital anomalies, mental Retardation.

Front 4

Von- Hippel Lindau

Back 4

- Autosomal dominant disorder
- Mutation of a tumor suppressor gene, which gives rise to neoplasms in the CNS -- involved organs include the cerebellum, retina, spinal cord, neural crest cell derivatives, kidney, and pancreas)
- Posterior fossa hemangioblastoma is a cystic structure with a solid intensely enhancing component. The cysts may contain very proteinaceous fluid and appear much like blood on MR. Cysts, relative to CSF, may be hyperin-tense on Tl while hypointense on T2, reflecting their relative protein content.
- Other tumors seen with VHL include renal cell CA, pheochromocytoma, retinal hemangiomas, pancreatic and renal cysts.
- Patients usually die of hemangioblastomas and renal cell carcinomas.

Front 5

1. What is Klippel-Feil (K-F) syndrome?
2. What is a Sprengel deformity and an omovertebral bone?
3. How do you distinguish KF from JRA?

Back 5

1. Congenital abnormality of failed vertebral segmentation yielding a reduced number of cervical vertebral bodies. Note that the spine develops from one column that later splits into segments. KF is also associated with renal adnesis, cardiac abnormalities, extremity deformities.
2. Sprengel deformity (congenital high-riding scapulae) may be seen in 25% of cases of KF and may be associated with an omovertebral bone. An omovertebral bone is a calcified structure that runs from the vertebrae to the scapula. More commonly a fibrous band extends from the scapula to the lower cervical vertebrae.

Front 6

1. What does situs refer to? Is situs dependent on cardiac apical position?
2. What is situs solitus?
3. What is solitus inversus?
4. What is the visceroatrial concordance rule?
5. What is heterotaxy syndrome?

Back 6

1. Situs describes the position of the cardiac atria and abdominal viscera. Situs is independent of the cardiac apical position. Levocardia and dextrocardia indicate only the direction of the cardiac apex.
2. Situs solitus: Left aortic arch, levocardia, left sided stomach bubble, right sided liver, trilobed right lung.
3. Situs inversus: Right aortic arch, dextrocardia, stomach bubble right-sided, liver left-sided, trilobed left lung
4. Visceroatrial concordance rule: Site of the liver correlates with situs of right atrium.
Site of the stomach correlates with situs of left atrium.
5. Heterotaxy syndrome characterized by situs ambiguus, congenital heart malformations, and splenic malformations (asplenia and polysplenia). When you see a discordance between cardiac apex and abdominal situs (stomach bubble and liver) it suggests a heterotaxy syndrome.

Front 7

What is Meckel Gruber syndrome?

Back 7

- Autosomal recessive, lethal disorder.
- Dysplastic markedly enlarged kidneys due to innumeralbe microscopic
cysts.
- Occipital encephalocele
- Polydactyly
- Bowing or shortening of the limbs

Front 8

1. What is the cause of cleidocranial dysostosis?
2. What are the imaging findings?

Back 8

1. Defect in ossification affecting intramembranous ossification affecting midline structures.
2.
- Large head with small face
- Widened sutures
- Wormian bones
- Enlargement of foramen magnum
- **Absence of distal clavicles. Fragmentation and failure to fuse can also be seen in the clavicles.
- Widened pubic symphysis.
- Supernumerary ribs,
- Hemivertebrae, spondylolysis
- Short/absent radius
- Coned epiphyses
- Coxa vara deformity

Front 9

Thanatophoric dwarfism

Back 9

- most common lethal skeletal dysplasia
- type 1: macrocephaly, shortening of the limbs, frontal bossing, bell- shaped abdomen with narrow thorax (pulmonary hypoplasia), telephone shaped femora, flattening of the vertebral bodies (platyspondyly).
- Type 2: clover leaf skull 2/2 premature closure of the sutures, straight femora.

Front 10

Williams syndrome

Back 10

- Elfin faces
- Abnormal dentition
- Supravalvular aortic stenosis
- Mental retardation
- Hypercalcemia
- Pulmonary artery stenosis

Front 11

Noonan syndrome

Back 11

- Short stature
- Pectus excavatum
- VSD
- Mulltiple pulmonary artery stenosis

Front 12

1. What are the imaging findings in achondroplasia?

Back 12

1.
- Shortened humeri and femora.
- Spine: narrowing of the interpediculate distance; short pedicles resulting in spinal stenosis, posterior scalloping of the vertebral bodies, anterior beaking of the vertebral bodies, gibbus deformity.
- Pelvis: flared iliac wings (ping-pong racket appearance AKA tombstone appearance), champagne glass pelvic inlet, decreased acetabular angle.

Front 13

1. What is the etiology of Osteogenesis imperfecta?
2. What are some associated findings in OI?
3. What are the subtypes of OI?

Back 13

1. Abnormal collagen synthesis that leads to congenital osteoporosis and skeletal fragility. Bones are markedly osteopenic, slender, and may be bowed due to microfxs.
2. Associated findings in OI include blue sclera, deafness (2/2 otosclerosis), poor dentition, ligamentous laxity, basilar invagination, wormian bones, enlarged sinuses, thin overtubulated bones (gracile), protrusio acetabuli, coxa vara deformity, flat vertebral bodies, multiple fractures, and easy bruising.
3. There are 2 main forms: Congenital (10%) and Tarda (90%).
- Congenital form has 2 subtypes (types 2 and 3) which present with multiple fxs at birth. Inherited as AR trait.
- Tarda form also has 2 subtypes (types 1 and 4). These are inherited as AD traits. Only 20% of pts present with fxs at birth. Excess callus formation is noted with fxs. Type 4 has normal sclera.

Front 14

1. What are the different types do short limbed dwarfism?
2. What is the most common type of rhizomelic dwarfism?
3. What is the most common type do mesomelic dwarfism?

Back 14

1.
- Rhizomelic: humerus and femora
- Mesomelic: radius/ulna and tibia/fibula
- Acromelic: phalanges
2. Achondroplasia
3. Dyschondrosteosis is the most common mesomelic dwarfism. Look for bilateral Madelung deformity.

Front 15

1. What are the different types of mucopolysaccharidoses?
2. What is the etiology?
3. What are the imaging findings in mucopolysaccharidoses?

Back 15

1. Hunter, Hurler, Morquio, and Sanfillipo's syndromes.
2. Enzyme deficiency that leads to deposition of mucopolysaccharides within multiple tissues. These pts also excrete mucopolysaccharides in their urine (heparan sulfate, keratan sulfate, and dermatan sulfate).
3.
**Thickening of the shaft of the metacarpal bones with tapering of the proximal ends of the second to fifth metacarpal bones.
**Wide ribs with narrowing at the costovertebral junction (oar shaped ribs)
**Anterior beaking of the vertebral bodies. Location of beaking is helpful in differentiating among these processes: inferior (Hunter's and Hurler's), central (Morquio), both (Sanfillipo).
- Early in life: anterior vertebral beaking
- Later in life: ovoid shaped vertebral bodies
- Late: Vertebra plana
- Osteoporosis with thickened trabeculae.
- Macrocephaly
- Thick calvaria
- Femoral head dysplasia
- Coxa valga

Front 16

Ectodermal dyplasia

Back 16

Findings:
Absense of primary teeth
Prominence of secondary teeth
X-linked recessive = males >>> females