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Part 2a: Developmental Disorders

“One of the chief defects in our plan of education in this country is that we give too much attention to developing the memory and too little to developing the mind…” – William Mayo –

“One of the chief defects in our plan of education in this country is that we give too much attention to developing the memory and too little to developing the mind…”
– William Mayo –
Developmental Disorders

In this category we place all deviations to the normal form of the human body, which arise during development in the time of organogenesis. We understand structural malformations through the study of embryology.

There is a long history of studying malformations – even in prehistoric times they were observed and explained, though generally only on the basis of supernatural phenomena. In the nineteenth century scientific study really began, the greatest proponent of which was John Hunter. At first only defects on the surface of the body were recognised, but through careful study and dissection it became clear that many types of malformation also occurred internally. It further became clear that many such internal malformations are symptomless in infancy and childhood, but may become manifest with advancing age. Today the study of congenital abnormalities is well developed. Within the wider category of deviations to normal form, keen observers have grouped patterns of malformations into syndromes. Often these have a single cause. The most famous of these patterns is perhaps Down’s Syndrome, described by the nineteenth century physician John Langton Down while working for neglected mentally retarded children at the ‘Earlswood Asylum for Idiots’ in Surrey. Like a number of syndromes this is now known to have an underlying genetic basis, trisomy 21.

It is important to pay attention to even subtle changes in external form as they may herald a complex of other important associated internal malformations. For example, Down’s syndrome is associated with life-threatening cardiac and gastrointestinal conditions.John Hunter (1797-1853). As a boy Hunter hated books and left school at 13, preferring the outdoors on the Scottish farm where he grew up. Eventually, after several years working odd jobs he went to work for his brother (an esteemed obstetrician in London) as a dissector of anatomical specimens. Hunter never looked back, rising to become one of the greatest anatomists and naturalists of all time and almost single-handedly putting the practice of surgery on a scientific foundation. His zeal was such that many of his exploits have become legendary, including body snatching a giant man, wrestling a tiger, and perhaps even infecting his own genitalia in an experiment to study venereal disease. Hunter’s thirst for natural enquiry was inexhaustible and his house literally overflowed with mummified exotics, skeletons, fossils, cadavers and dissecting students. His garden held an incredible zoo of animals, which Hunter went to great trouble to collect from all around the world in order to observe and experiment with. At his death, a collection of 14,000 specimens, mostly prepared by Hunter himself, formed the foundation of the famous Hunterian Museum at the Royal College of Surgeons in London. Among many other interests, Hunter had a great curiosity for ‘monsters’, which he used extensively to study the developmental stages of life. The Hunterian collection (that which survived Nazi bombs during World War II) includes the finest and most comprehensive collection of structural malformations in the world today.

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