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2002-06-14-12 Answer to the case of the week #75 © Sosa

Answer to case #75

June 13-July 3, 2002

Alberto Sosa Olavarría, MD, PhD. Gelsy Giugni Chalbaud Luis Díaz Guerrero, MD, Miguel A. Granda MD, Jose Riera MD

Unidad de Perinatologia, Maternidad Las Acacias ,Valencia, Venezuela

This late 3rd trimester fetus from a 26-year-old primigravida patient. 

The following are images from her scan showing:


Head-thorax disproportion  

Dandy-Walker anomaly  

Dilated aorta


Pulmonary stenosis  

  Left ventricular cavity

Rockerbottom  foot 





Brachydactyly / clinodactyly 

Pectus excavatum  

Single umbilical artery  

Normal ductus venosus Doppler wave 


So the findings were: 

  • absent nasal bone
  • hypertelorism
  • narrow thorax
  • Dandy-Walker 
  • Pulmonary stenosis, hypoplastic right ventricle
  • Rockerbottom  foot
  • four fingers on the right hand
  • Pectus excavatum
  • single umbilical artery
  • normal ductus venosus blood flow

The only person that found the correct diagnosis was Luis F. Gonçalves MD (Brazil) and he used a tool on that few have probably looked at:. If you go under Search > Syndrome > NIH you can search Search Jablonski"s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database. This is a different database that the OMIM we usually use.


By choosing Dandy Walker as a Major feature in the Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database only 9 article match and trisomy 9 is the second listed !

OK... Kuddo to Luis to have unearth this pearl.. and all of us need to go back to review that database !

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