This document contains images and descriptions of various congenital malformations, infectious diseases, neoplasms, and other pathological conditions that can be observed in the human body. Some examples included are cleft lip, clubfoot, hydrops fetalis, measles rash, lung cancer, ascariasis, and tetralogy of Fallot. The document serves as a visual reference for various normal and abnormal anatomical structures and diseases.
2. Examples of Malformations
A. Polydactyly (one or more extra digits) and syndactyly (fusion of digits)
B. Cleft lip (may be with or without associated cleft palate)
C. Lethal malformation (midface structures are fused or ill-formed); external
dysmorphogenesis associated with severe internal
anomalies such as maldevelopment of the brain and cardiac
defects
8. Trisomy 18 (Edward’s Syndrome)
• unusually small head
• back of the head is prominent
• ears are malformed and low-
set
• mouth and jaw are small (may
also have a cleft lip or cleft
palate
• hands are clenched into fists,
and the index finger overlaps
the other fingers
• Clubfeet (or rocker bottom
feet) and toes may be webbed
or fused
10. Hyaline Membrane Disease
This is hyaline membrane disease due to
prematurity and lack of surfactant
production from type II pneumonocytes
within the immature lung. Note the thick
pink membranes lining the alveolar
spaces.
12. Necrotizing enterocolitis (NEC)
Pneumatosis
instestinalis
(air within
the intestinal
walls)
The plain abdominal film shows air in the portal vein, air in the bowel walls, and a large
pneumoperitoneum [subdiaphragmatic free air, perihepatic free air, double wall sign (blue
arrows), triangle sign (green arrows), and falciform ligament (red arrow)].
13. Hydrops Fetalis (non-immune)
Cystic
hygroma (in
fetus w/
Turner’s
syndrome)
Generalized edema from fluid collection in the soft tissues
results in hydrops fetalis. Causes: Most common are "non-
immune" types that include infections, congestive failure (from
anemia or cardiac abnormalities), and congenital anomalies.
Immune hydrops, from maternal antibody formed against fetal
red blood cells, is not common when Rh immune globulin is
employed in cases of potential Rh incompatibility.
21. Wilms Tumor, kidney
nests and sheets of dark blue cells at the left
with compressed normal renal parenchyma
at the right
Wilms tumor of the kidney (lobulated white-tan mass), many are associated with genetic defects on
chromosome 11.
Children present with abdominal enlargement from the mass effect.
73. Aneurysm
Atherosclerotic aneurysm of
the aorta (large "bulge“ just
above the aortic bifurcation).
Prone to rupture when they
reach about 6 to 7 cm in size.
Felt on PE as a pulsatile mass
in the abdomen.