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Sirenomelia

By: Palvi Mroke

Survival Case

Case

Tiffany Yorks (1988)

Mrs. SK, a woman 25 years old without any noticeable pathological precedent, married for three years to a cousin of the third degree and secondiparous and was presenting to be in the seventh month of pregnancy.

The first examination showed a 25 cm uterus, a live fetus and a woman in the first stages of labor. The ultrasound examination performed showed a single pregnancy at its 29th week of gestation, with an anhydramnios, no bladder and no kidneys, and the ultrasound showed a heterogeneous intra-abdominal image of 4 cm (blind bowel), and a single femur was observed. The absence of amniotic fluid hindered a better morphological study.

The delivery occurred three hours after admission. The newborn weighed 1450 g and was polymalformed with a poor Apgar score and died 20 minutes after birth from respiratory distress, probably owing to pulmonary hypoplasia.

Shiloh Pepin (2008)

Features revealed:

a) Sacral Agenesis

b) Single Femur

c) Vertebral Dysenesia

- L4-L5

Thank you!

Characterization

Symptoms

Physical malformation:

- partial or complete fusion of lower extremities

  • variable degree

- one femur, or two

- one foot, no feet or both feet

  • appearing rotated

Additional Features:

  • NO external genital organs
  • Absence of urinary orifice

Internal Abnormalities:

- Urogenital Absence

  • Kidney, Bladder, Spleen, Gallbladder

- Cystic Malformation of Kidneys

- Narrowing of Urethra

- Imperforate anus

- Sacral or Lumbar Spine Abnormalities

  • curvature effected

- Abdominal Organ Protrusion

Figure 1

  • Blind Bowel
  • Normal Liver
  • Normal Heart
  • Renal Agenesis
  • Absent Rectum
  • Aorta

  • Mermaid Syndrome
  • Extremely rare
  • 1 out of 100 000
  • Extremely fatal
  • odds against those with this disorder
  • Appearance:
  • rotation and fusion of legs
  • fish-tail/ mermaid-like
  • one femur, or may have two within one shaft of skin
  • Most severe form of Caudal Regression Syndrome (CRS)

Figure 2

  • tubular bladder

Cause

Diagnosis

  • Unknown
  • Sporadically
  • Environmental and Genetic Factors
  • Insufficient Blood Supply Factor
  • "stealing" blood
  • Malnutrition
  • Irregular development of blood circulation
  • prematurally
  • second trimester via fetal ultrasound

Features:

Figure 1

Potter’s Face:

a) Ocular Hypertelorism

b) Low-Set Ears

c) Receding Chin

d) Flattening of the Nose

e) Absence of Urinary Orifice

Figure 2

a) Anal Imperforation

b) Two Slender Limbs

Treatment

  • Surgery
  • Process:
  • preparation - balloon-like tissue expander inserted under skin and filled with salt solution over period of time
  • Balloons expand = skin stretch and grow
  • Separate bones
  • excess skin is used to cover legs when separated
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