Evidence for possible Mendelian inheritance of septo-optic dysplasia.
We describe two siblings from a highly consanguineous pedigree with absent mid-line brain structures and hypopituitarism. This raises the possibility of a heritable basis for at least some forms of the septo-optic dysplasia sequence.
Wales
J K
JK
University Department of Paediatrics, Sheffield Children's Hospital, UK.
Quarrell
O W
OW
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D010375:Pedigree; D012688:Septum Pellucidum / Q000002:abnormalities*