Developmental Defects

Developmental defects are a group of abnormalities during fetal life due to errors in
morphogenesis.

Morphogenesis - is a biological process that causes a tissue or organ to develop its shape by
controlling the spatial distribution of cells during embryonic development.
Teratology - branch of science dealing with the study of developmental anomalies.
Teratogens - chemicals, drugs, physical and biological agents known to induce birth defects.
Malformation - the morphological abnormality or defect in an organ or anatomic region of the
body.

Etiology:
Teratogens
Ex. Thalidomide increases risk of limb reduction anomalies (phocomelia) in newborns.
Genetics
The defect is passed on as a trait from the parent to offspring.

Agenesis
Means the complete absence of an organ e.g. unilateral or bilateral agenesis of kidney.
Aplasia
Is the absence of development of an organ with presence of rudiment or anlage e.g. aplasia of
lung with rudimentary bronchus.
Atresia
Refers to incomplete formation of lumen in hollow viscus e.g. esophageal atresia

Morphogenesis
Morphogenesis is the process by which the cells of the developing embryo move around and
organize themselves into structures, organs and systems of adult organisms. Morphogenesis is
induced by a combination of chemical and mechanical factors.
Renal Agenesis
Unilateral - absence of one kidney
Bilateral - absence of two kidney

Formation of Kidneys:
Mesonephric Duct
Gives rise to the urinary and reproductive organs

Failure of the ureteric bud to induce the metanephric blastema leads to renal agenesis.

Factors that may cause the ureteric bud to fail to induce the metanephric blastema:
Genetic factors
Environmental factors
Unilateral Renal Agenesis
- Usually asymptomatic
- increased filtration to compensate for the other missing kidney could lead to hypertension and
renal failure

Bilateral Agenesis
- both kidneys failed to develop

During fetal development, the kidneys filter fetal blood and produce fetal urine which contributes
to the amniotic fluid.
Meaning if both kidneys are absent, there will be less amniotic fluid. This condition is called
oligohydramnios.

Less amniotic fluid leads to:

- Pulmonary hypoplasia: amniotic fluids stretches the airways and contributes enzymes
such as proline to help in lung development. Since there is less amniotic fluid, the lungs
will not develop properly.
- Developmental abnormalities: due to less amniotic fluid, the amniotic sac will be
compressed and will cause abnormalities.
Other examples of agenesis:
a. Acrania - absence of the cranium
b. Anencephaly - absence of the brain
c. Agnathia - absence of the lower jaw
d. Anophthalmia - absence of one or both eyes
e. Abrachia - absence of forelimbs
f. Adactylia - absence of digits

Agenesis vs. Aplasia

- Agenesis is the absence of an organ due to absent primordial tissue while aplasia is the
absence of an organ despite the presence of primordial tissue.

Examples of aplasia:
a. Aplasia cutis - absence of certain layers of skin
b. Aplasia of lung with rudimentary bronchus
c. Bone marrow aplasia
Aplasia Cutis
- Since certain layers of skin are absent, areas affected by aplasia cutis are susceptible to
skin ulcers and infections
- Small defects can be treated with dressings, ointments and antibiotics, and can be
surgically corrected but the condition can be fatal when it is extensive.

Aplasia of lung with rudimentary bronchus

- In this X-ray image, only the left lung is completely developed, the right lung is absent
and there is only the presence of a rudimentary bronchus.
- This X-ray is taken from a two-year old Pomeranian, meaning an animal can live
normally with the absence of one lung.
Bone marrow aplasia
- The bone marrow becomes hypercellular when hematopoietic cells exhibit increased
proliferation in response to peripheral needs or demands. The left image shows bone
marrow hypercellular activity in a dog suffering from blood-loss iron deficiency anemia.
- The left image shows hypocellular bone marrow from a dog with bone marrow aplasia.
Compared to the other image, it does exhibit proliferation of hematopoietic cells.

Atresia
- Absence of normal opening

Atresia ani
- Absence of anus opening
 - The cloaca is a common route for gastrointestinal and urogenital tracts in the canine and
feline embryo.
- By the seventh to eighth week of development the urorectal fold, which located
between the allantois and the hindgut openings in the cloaca, initially divides the cloaca
into the dorsal part called the rectum and the ventral part called the urogenital sinus
- Failure of the urorectal fold to divide the cloaca completely or failure of the anal
membrane to rupture after anal creation results in atresia ani.

Types of Atresia Ani: