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2003-01-16-09 Otopalatodigital syndrome type II © Sosa www.thefetus.net/


Otopalatodigital syndrome type II

Alberto Sosa Olavarría, A. MD, PhD, Beira Arellano MD

Perinatology Unit, Carabobo University, Valencia – Venezuela

A 24-year-old G3 P01 patient (one cesarean section, one miscarriage) was scanned at 25 weeks of pregnancy for a routine examination.

The findings included:

  1. Large, bowed bones mostly at the level of the tibias with very small fibulas.
  2. Hypertelorism, micrognathia
  3. Narrow thorax
  4. Feet and hands deformities: toes separation with hypoplastic large toe on one side and missing on the other.
  5. Platyspondyly.

 

The fetus after delivery. The following observations can be confirmed:

Face:

  1. micrognathia, and low set ears,

Skeleton:

  1. narrow chest,
  2. camptodactyly,
  3. bulbous fingertips,
  4. hypoplastic thumbs and great toes,
  5. femoral and tibial bowing,
  6. fibular hypoplasia/aplasia,
  7. prominent calcanei,
  8. bowing and/or hypoplasia of those tubular bones

Others:

  1. cryptorchidism.

 

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