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The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600

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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 lower down as if inside out.

Nose depressed flat to face - no nostrils - at lower end a round button of fleshy substance the size of a nut. On either side, higher than the nose the upper lip was slit or hare-thorne from which two slits thro' the pallet or roof of the mouth there passed two hoolow trenches, almost two fingers deep - to the gullet, which seemed to be the passage of the nostrils - the lower part of the mouth on either side of the tongue like a deep trench.

Mouth smaller than usual - no gunms, jawbones or lips.

Face more wrinkled than most - grim to behold.

No thumbs or any outward partition of fingers - fingers covered all with one skin, “as with a mitten”, but with joints.

Finger of left hand (digitus annularis/ring finger) had nail and was separated towards the end.

Not clear if the child was male or female - had perfect members of neither - urine issued out of a small hole in the proper place - sometimes seemed more male, sometimes more female.

Knees up to the belly, legs fixed to buttocks; the calf of the left leg growing to the buttock, and thigh unto the small of the legge; but the right leg quite down to the heele, within two fingers breadth.

Right foot bowed towards the left and joined to it by a string of flesh at the ends of the big toes - the rest of the toes covered with one skin as were the hands.

The body bigger and longer than other children.

The child died on the third day and was said not to sleep because “it had no eyelids”. In summary, the child appears to have had severe facial clefting affecting the lip and palate with a small or absent nose, abnormal eyes and periorbital structures, probable micrognathia, fusion syndactyly of the hands and feet, severe lower limb popliteal pterygia and club foot with a filiform adhesion, and hypoplastic/ambiguous genitalia. The unusually clear and detailed description of the features makes it possible to suggest a diagnosis compatible with consanguinity and autosomal recessive inheritance, namely lethal pterygium syndrome with facial clefting, first described in modern times by Bartsocas and Papas2 (MIM 263650). Including a recent report of four affected Arab sibs,3approximately 20 cases have been described, not all of which have shown early lethality. Most reported cases have originated from the Mediterranean area, adding interest to this historical account from rural England where the first cousin parents were reliably indigenous.

In the 16th-17th century, use of the term “monster” to describe deformity lacked the modern pejorative overtones of that word and such births were regarded as punishment from God. In 1620 Francis Bacon, one of the fathers of modern scientific thinking, suggested that “a compilation, or natural history, must be made of all monsters and prodigious births of nature; of everything, in short, which is new, rare, and unusual in nature. This should be done with rigorous selection, so as to be worthy of credit”.4 This detailed description of 1600 is certainly worthy of credit.

The concept and law relating to incest was very different in 17th century England compared with today. Incest was not a criminal offence but was prohibited by Canon Law and so heard in the Church Courts. Its scope was wide, embracing not only cases of consanguinity (including first cousin unions) but also cases of “affinity”, for example, a sexual relationship between a woman and her brother in law (although this could be dispensed with in specific cases if proper approaches were made before marriage). It was not until the late 19th century that marriage with a “deceased wife's sister” was allowed as a matter of course. Seventeenth century Scottish law was different and incest was a criminal offence, leading to a number of executions for sexual relations even in the category of “affinity”. Changes and rationalisations in the Law of Incest came about precisely at the time when the science of genetics was born, the publication of Francis Galton's Natural Inheritance in 1889 being particularly significant.

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