Case of the Week # 75 Alberto Sosa Olavarría, MD, PhD; Gelsy Giugni Chalbaud; Luis Díaz Guerrero, MD; Miguel A. Granda MD June 13-July 3, 2002 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: What is (are) the finding(s), and the name of the condition ? Note I will be on vacation form June 22-June 28 in a place totally unreachable by internet (yes still exist)... so only start thinking of my demise after June 30 (my 20th anniversary of moving to the USA !) View the Answer Hide the Answer Answer This late 3rd trimester fetus from a 26-year-old primigravida patient. The following are images from her scan showing: Hypertelorism 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 TheFetus.net 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 ! Discussion Board Start a discussion about this case Add to Favorites Favorite