The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600
- *Clinical Genetics, Royal Devon & Exeter Hospital, Barrack Road, Exeter, Devon EX2 8AB, UK
- †Faculty of Arts and Education, University of Plymouth, Douglas Avenue, Exmouth, Devon EX8 2AT, UK
- Dr Turnpenny, turnpenn{at}eurobell.co.uk
Editor—A recently reviewed 12 page pamphlet dated 1600, housed at the Bodleian Library, Oxford, contains a detailed account of a severely malformed infant born in Herefordshire in January 1600.1 The child, whose gender was uncertain to the observers, was born to first cousins. “A most straunge, and true discourse, of the wonderfull iudgement of God. Of a monstrous deformed infant, begotten by incestuous copulation, betweene the brother's sonne and the sister's daughter, being both vnmarried persons”.
Adhering closely to the language of the day the infant is described thus.
Head longer than ordinary children with no hair on the head or eyebrows.
Both eyes standing far out of the head, unequal to each other - right eye very small, like a black sloe sticked half out in the flat face - no eyelid or eyepit - “as it were a bullet sticking in a plain wall”; the left eye was very big and eminent, sticking out like the other but with eyelids which were drawn the upper up and the …
