ARTICLE: PDF OnlyCerebellar hypoplasia, facial dysmorphism and internal abnormalities a new recessive syndrome?Seller, Mary J.; Pal, Kalyani; Moscoso, G.; Nicolaides, K.; Hyett, J. A.Author Information South Thames (East) Regional Genetics Centre, 7/8th floors, Guy's Tower, Guy's Hospital, London SE1 9RT, UK; Department of Obstetrics and Gynaecology, St George's Hospital, London SW17 0QT, UK and Harris Birthright Research Centre for Fetal Medicine, King's College School of Medicine and Dentistry, Denmark Hill, London SE5 8RX, UK Clinical Dysmorphology: January 1998 - Volume 7 - Issue 1 - p 41-44 Buy Abstract Three female sibs had cerebellar hypoplasia, facial dysmorphism comprising a high forehead, lowset posteriorly rotated ears, a prominent upper lip and receding chin, and variable internal abnormalities. Two of the cases had deficient lobulation of the lungs, two had an atrial septal defect of the heart and developmental abnormalities of the urinary system or internal genitalia, one had holoprosencephaly. All had normal chromosomes. This syndrome does not seem to have been reported before and may be inherited in an autosomal recessive manner. © Lippincott-Raven Publishers.