Syndromes, disorders, and zebras Flashcards
1
Q
Apert’s
A
Brachycephaly (coronal synostosis)
Fused fingers/ syndactyly / sock hand
2
Q
Crouzon’s
A
Brachycephaly (coronal synostosis) 1st arch hypoplasia (Maxilla and mandible) PDA and coartation Rhizomelia Chiari 1
3
Q
PHACES
A
P- Posterior fossa / dandy walker H - Hemangiomas A - Arterial anomalies C - Coarctation of the aorta and cardiac defects E - Eye abnormalities S - Subglottic hemangiomas
4
Q
Shwachman-Diamond
A
2nd most common cause of pancreatic insufficiency
short stature
eczema
pancreatic lipomatous pseudohypertrophy
5
Q
Dorsal pancreatic agenesis
A
Pancreas without a tail
most beta cells are in tail -> DM
associated with polysplenia
6
Q
Right sided heterotaxia
A
Two fissures in the left lung
Asplenia
More cardiac malformations
Reversed aorta/IVC
7
Q
Left sided heterotaxia
A
One fissure right lung
Polysplenia
fewer cardiac malformations
Azygous continuation of the IVC
8
Q
VACTERL
A
V - Vertebral anomalies A - imperforate Anus C - Cardiac TE - TE fistula R - Renal L - Limb
9
Q
Beckwith-Wiedemann
A
Hemihypertrophy
wilms
omphalocele
hepatoblastoma
10
Q
Sotos
A
Macrocephaly
Wilms
CNS
11
Q
WAGR
A
Wilms
Aniridia
Genital anomalies
Growth retardation
12
Q
Drash
A
Wilms
Pseudohermaphrodism
Progressive glomerulonephritis
