Medical findings and congenital anomalies in Vermeer's paintings.

The 17th century was a time of scientific discovery in Europe. Leading academic centers provided the general population with an opportunity to view anatomic dissections of human bodies. Rather than portray idealized versions of individuals, Dutch painters were committed to accurately representing their models. This was true for Johannes Vermeer. The 2023 exhibition of Vermeer's paintings at the Rijksmuseum in Amsterdam provided an unprecedented opportunity to observe 28 of his 37 existing paintings simultaneously in person. Here the authors suggest that in at least eight paintings a visibly pregnant woman is present. Vermeer's wife was pregnant or lactating most of the time during their 22-year marriage. Further, evidence of specific medical findings and congenital anomalies such as polydactyly, ectrodactyly, alopecia, kyphosis, and hyperthyroidism were observed in the paintings. These have not been previously reported in the medical or art history literature.

[Retrospect and prospect of the genetic research on birth defects in China].

An important part of China's "Healthy China 2030" planning is to lower the rate of birth defects. Because genetic factors contribute solely or collaboratively to about 80% of the occurrence of birth defects, genetic studies on birth defects can provide precise molecular targets for clinical screening, diagnosis and treatment. Genetic research on birth defects in China has developed by leaps and bounds since 1960s. At the same time, as related research achievements keep accumulating, translation of these scientific discoveries to clinical applications, with genetic counseling and testing as the core practices, has been developed and optimized. A close collaboration between genetic researches and clinical applications would provide reliable technical support for giving birth to more "healthy children" in China. This article firstly reviews China's history of genetic research on birth defects, then introduces current situation and hot topics of the research area at home and abroad and finally discusses about future trend and related clinical applications. In summary, an overall view is provided here for the readers to understand the development route of genetic research on birth defects in China.

Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy.

The Peter the Great Museum of Anthropology and Ethnography (Kunstkamera) in Saint Petersburg is the oldest museum in Russia. It keeps the remains of the anatomical collection of the world-famous 17th century Dutch anatomist Frederik Ruysch. This unique collection was bought and shipped in 1717 by Czar Peter the Great, and presently still comprises more than 900 specimens, a modest number of which concerns specimens with congenital anomalies. We searched for teratological clues in the existing collection and in all his descriptions and correspondence regarding specimens and cases he encountered during his career as doctor anatomiae and chief instructor of the surgeons and midwives in Amsterdam. A total of 63 teratological specimens and case descriptions were identified in this legacy, including some exceedingly rare anomalies. As it turns out, Ruysch was the first to describe several of the conditions we encountered, including intracranial teratoma, enchondromatosis, and Majewski syndrome. Although his comments pose an interesting view on how congenital anomalies were scientifically perceived in early 18th century Europe, Ruysch mostly refrained from explaining the causes of the conditions he encountered. Instead, he dedicated himself to careful descriptions of his specimens. Almost 300 years after his demise, Ruysch's legacy still impresses and inspires both scientists and lay men. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH.

The investigation of mammalian malformations began to approach human needs in the 19th century with, for example, Meckel's dissection of sibs with the "Meckel" syndrome, his intimation of Heredität as cause of the condition, his conclusion as to the common causal origin of this specific combination of congenital anomalies, the clear enunciation of the concept of primary malformations, the recognition that many human malformations are normal developmental states in other animals, and that some were normal anatomical states in remote ancestors and now still normal in collateral descendants (atavisms, Darwin's "reversions"; for example, four wings in dipterans, normal in dragonflies and their common ancestor). Later in the century, Wilhelm His Sr. had proposed a schematic map of "organ-forming districts" for prospective chick development, a concept that did not sit well with early workers in developmental biology (e.g., Boveri) until methods became available for a direct experimental "attack" on the embryo. This approach was pioneered by Spemann and Mangold through interspecies transplantation of embryonic rudiments with the spectacular result that set the research stage in developmental biology for the next many years. But it was not until mid-century that the late, great geneticist, Curt Stern, made the His model of chick development more intellectually and experimentally approachable with his meticulous analysis of cuticular appendages of Drosophila, one bristle and one bristle group (field) at a time, in mosaics or gynandromorphs, leading to the ingenious concept of prepatterns. As a basic scientist, Stern did not broaden prepatterns into medicine or to human malformations where it has now found a most gratifying application. This contribution to the Carey Festschrift is to summarize, briefly, field and prepattern theory. © 2016 Wiley Periodicals, Inc.

Dwarfism in art.

Throughout the history of mankind the birth of a child with congenital malformation raised anxiety and torment, along with attempts to explain its origins. It is possible to find relics of such events in prehistoric rock drawings and primitive sculptures, in numerous art pieces produced through the centuries up to modern sculptures, paintings and drawings. The aim of the present article is to show how dwarfs were portrayed in a variety of art forms at different moments in the history of our world.

The study of genetic syndromes in a rural setting.

The syndromal and genetic biology reported and reviewed herein can be studied, analyzed and reported by any "GP" with the required gifts, enthusiasm, drive, and ability to work with collaborators of goodwill at University centers near or far; and most importantly, to continue lifelong education and retraining. Beginning individually in rural Boulder, MT in 1947 it was possible to train in phenotype analysis with methods available to any GP, somewhat later to enlist collaborators at the Universities of Wisconsin and Washington, and finally to establish a genetic services program at a regional medical center (Shodair Children's Hospital in Helena) with fiscal support from the State Legislature amending and extending the prior Newborn Screening Act of Montana. With such financial stability it was possible to attract another physician, genetic counselors and a cytogeneticist to the Shodair Program. This genetic center now has expanded to a staff of 22 with advanced capabilities in cytogenetics, biochemistry and molecular biology (q.v. Elias in this issue). In these past 50 years then I have seen the Montana Genetics Program grow from humble rural beginnings to the amazing center it is now providing statewide outreach services, genetic education and the most advanced diagnostics and research. Now, it may not be inappropriate for me to recommend the Montana model for implementation in other genetically underserved regions throughout the United States.

Palaeopathology of human remains from the Roman Imperial Age.

The increasing attention of archaeological and anthropological research towards palaeopathological studies has allowed to focus the examination of many skeletal samples on this aspect and to evaluate the presence of many diseases afflicting ancient populations. This paper describes the most interesting diseases observed in skeletal samples from five necropolises found in urban and suburban areas of Rome during archaeological excavations in the last decades, and dating back to the Imperial Age. The diseases observed were grouped into the following categories: articular diseases, traumas, infections, metabolic or nutritional diseases, congenital diseases and tumors, and some examples are reported for each group. Although extensive epidemiological investigation in ancient skeletal records is impossible, palaeopathology allowed highlighting the spread of numerous illnesses, many of which can be related to the life and health conditions of the Roman population.

Biographical sketch: William John Little, FRCS (1810-1894).

This biographical sketch on William Little corresponds to the historic text, The Classic: Hospital for the Cure of Deformities: Course of Lectures on the Deformities of the Human Frame (1843), available at DOI 10.1007/s11999-012-2302-y .

The classic: Hospital for the cure of deformities: course of lectures on the deformities of the human frame. 1843.

This Classic Article is a reprint of the original work by W.J. Little, Hospital for the Cure of Deformities: Course of Lectures on the Deformities of the Human Frame. An accompanying biographical sketch of W.J. Little is available at DOI 10.1007/s11999-012-2301-z . The Classic Article is ©1843 and is reprinted courtesy of Elsevier from Little WJ. Hospital for the Cure of Deformities: course of lectures on the deformities of the human frame. Lancet. 1843;41:350-354.

Teratology on the crossroads: historical aspects and modern approaches.

Teratology is the science of congenital developmental disorders (CDDs), overt or latent defects of the organism resulting from the effect of internal and external factors on developmental processes. In this article the significance and position of present-day teratology is discussed in the context of development of this branch of science and related disciplines. The authors present an updated overview of the most important milestones and stages of the development of teratology. Based on the analysis of the historical development of theses and theories that represent a decisive contribution to this field, we present a survey of the fundamental principles of experimental and clinical teratology. The aim of observing these principles is to get insight into developmental relations and to understand mechanisms of action on the level of cell populations (elementary morphogenetic processes), tissues and organs. It is important to realize that any negative intervention into the normal course of these processes, either on genetic or non-genetic basis, inevitably leads to a sequence of subsequent changes resulting in the development of congenital developmental disorders. Despite modern approaches of molecular biology and genetics, along with top diagnostic techniques, we are still not able to identify the actual cause in more than 50% of all congenital defects. One-half of the unidentified cases are referred to as "multifactorial", a term that is rather ambiguous. It either means that some of the basic principles of teratogenesis still escape our attention, or the interpretation of some of the well known principles might be misleading. A third possibility is rather pessimistic. The development of the individual is so sophisticated and dependent on a delicate network of a multitude of factors mutually affecting each other that it is extremely prone to give rise to a plethora of spontaneous errors which are unpredictable and impossible to prevent. Nevertheless, the long and complicated history of scientific endeavour has yielded considerable present-day knowledge on causes and mechanisms of CDDs, a history whose beginnings date back to antiquity.

'Abnormalities and deformities': the dissection and interment of the insane poor, 1832-1929.

The body trade of anatomy schools in Victorian times that underpinned the expansion of medical education has been neglected. This article examines dissection records of insane paupers, sold to repay their welfare debt to society. Each cadaver was entered in an 'Abnormalities and Deformities' dissection book. Student doctors paid fees to anatomists to be taught the pathology of insanity under the Medical Act. Anatomists also dissected cadavers to do further brain and eye research on epilepsy and glaucoma in the insane. These bodies were often dissected to their extremities. Their fragmentary remains were then disposed of in a common grave. This secret body trade and its asylum supply-chain merit further work in disability studies and the history of psychiatry.

Bilateral arcuate foramen associated with partial defect of the posterior arch of the atlas in a medieval skeleton: case report and review of the literature. Looking backward to go forward.

PURPOSE: We observed a complex atlas (C1) dysmorphism in a human medieval skeleton dug up from the sixth to the seventh century necropolis located in the north-eastern Italy. We analyzed such a dysmorphism in the light of pertinent literature and discussed the functional and clinical implications related to this type of C1 structural malformation. METHODS: Macroscopical and CT-SCAN examinations of the atlas were carried out. RESULTS: Bone findings consisted of partial aplasia of the posterior arch of the C1 accompanied by a bilateral arcuate foramen. In addition, the spinous processes of C7 and T1 were found to be bifid. CONCLUSIONS: Although such abnormalities are supposed to be clinically inconspicuous, yet they may become challenging or even dangerous in the context of trauma. They may even complicate specific diagnostic or surgical procedures. In addition, they may cause a great number of symptoms, ranging from headache and neck pain to loss of postural muscle tone and consciousness, due to the close and complex relationship of bone structures with nerves, blood vessels, muscles, and ligaments. As a result, radiologists, clinicians, surgeons, and chiropractors should consider in their clinical reasoning the possibility that atlas dysmorphisms may occur.