Dysmorphism
|
Long philtrum, beaked nose
|
Long philtrum, large ears, beaked nose
|
Long philtrum, large ears, beaked nose, sparse hair on temporal sides
| |
Skin
|
Loose redundant skin folds
|
Loose redundant skin folds
|
Loose redundant skin folds
|
Hyperextensible skin
|
Coarse face
|
Skin redundancy
|
Cardiovascular
|
ARD, valvular anomalies
|
SVAS, PPAS
|
PPAS, CPAS
|
ARD, multiple arterial aneurysms
|
Emphysema
|
+
|
+++
|
+++
|
+/-
|
Genitourinary diverticula
|
+
|
+++
|
++
|
?
|
Gastro-intestinal diverticula/tortuosity
|
-
|
+
|
+++
|
?
|
Inheritance
|
AD
|
AR
|
AR
|
AR
|