“Prevalence:

• 1 in 500,000 births.

Ultrasound diagnosis:

• Micromelia, short ribs with hypoplastic thorax, polydactyly (usually preaxial).
• There are four types of short-rib polydactyly syndrome:
  • Type I (Saldino-Noonan): narrow metaphyses.
  • Type II (Majewski): facial cleft and disproportionally shortened tibiae.
  • Type III (Naymoff): wide metaphyses with spurs.
  • Type IV (Beemer-Langer): median cleft lip and ambiguous genitalia in some 46,XY individuals.

Associated abnormalities:

• Heart defects, polycystic kidneys, brain malformations and intestinal atresia.

Investigations:

• Detailed ultrasound examination.

Follow up:

• If pregnancy continues, follow-up should be standard.

Delivery:

• Standard obstetric care and delivery.

Prognosis:

• The condition is lethal due to severe pulmonary hypoplasia.

Recurrence:

• Autosomal recessive inheritance: 25%.

The disease is inherited in an autosomal recessive pattern.

It was characterized in 1971.^[1]”

Read More

Source

We will be adding more information in the future. Have questions or looking for guidance regarding a life-limiting diagnosis? Contact us here.