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2000-11-01-12 Short rib-polydactyly syndrome Type II © Heredia

Short rib-polydactyly syndrome Type II (Majewski)

Fernando Heredia , MD, Carlos Henr?quez , MD ; Philipe Massoc , MD, Eliana Selman , MD, Jorge Cabrera , MD.

Faculty of Medicine, University of Concepcion, Chile: 1 Obstetrics and Gynecology Fellows of Obstetrics and Gynecology Department, 2 Genetics Professor, Pediatrics Department, 3 Professor and Chief of Obstetrics and Gynecology Department.

Case report:

This is a 43-year-old patient, with 3 previous uneventful pregnancies and no consanguinity presented at our center, Guillermo Grant Benavente Hospital, with an uncontrolled clinical term gestation and a 12-hour premature rupture of the membranes.

Due to non-reassuring patterns of the fetal heart rate tracing during the induction, a C-section was performed, and a female newborn was delivered, weighing 3110 grams, and 45cm of length. Her Apgar scores were 2-2-2-2. It was virtually impossible to intubate due to a malformed larynx.

In the neonatal exam, the most prominent findings were :



“Tender” cranium due to wide fontanels.

Small, low set and malformed ears.



Apparent bilateral ocular agenesia

Deep and low nasal bridge.

Central cleft lip.

Complete cleft palate.

Hypoplasic and bifid tongue.


 Larynx (during intubation)




Bell-shaped with markedly decreased inspiratory movements.

Bilateral depression in the intersection of 3rd to 6th intercostal space and median clavicular line



Wide cord insertion site.

Thick umbilical cord (3.5cm)

External genitalia


Upper limbs



Bilateral simian crease.


Lower limbs


Short wide and edematous thighs.

Extremely short end edematous legs.

Extreme adduction of both feet.

Bilateral postaxial polysyndactyly of first toe.

Bilateral preaxial polydactyly of fourth toe.

Seven toes in each foot.


Abnormal abundance on forehead.



Unfortunately, no X-rays were obtained after birth to confirm the diagnosis.

The newborn died two hours later due to respiratory failure.

The following photos were taken a few minutes after death:


The necropsy, performed the day after this pictures were taken, showed further findings :

·         Bilateral ocular agenesis.

·         Severe pulmonary hypoplasia.

·         Right cerebral hemisphere cystic mass

·         Gallbladder agenesis.

·         Ascitis.

The diagnosis proposed by the genetic team of our center is Short rib-polydactyly syndrome Type II (Majewski)

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