Search

Background: Surveillance of congenital anomalies is important to identify potential teratogens., Methods: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980-2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models., Results: Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing., Conclusions: The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation.

"Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital defect of the Müllerian ducts characterized by uterovaginal agenesis and underdeveloped female genital organs. This paper is a tribute to the contributors of this condition - August Franz Joseph Karl Mayer, Karl Freiherr von Rokitansky, Hermann Küster and Georges André Hauser. In addition to their contributions, we have discussed findings and reports of similar defects from other important scientists (Hippocrates, Albucasis, etc.) dating as far back as 460B.C. We have also discussed the disease types and different classification systems including VCUAM and AFS/ASRM among others. Even with several surgical and non-surgical treatment options, there are still many questions that remain unanswered and very little is known about the etiology or genetic predisposition of this condition., (Copyright © 2014 Elsevier B.V. All rights reserved.)

People with birth defects have been stigmatised, marginalised and discriminated against for millennia, diminishing their human dignity and abrogating their human rights. Beginning with the United Nations Universal Declaration of Human Rights, promulgated in 1947, the circumstances in which human dignity in healthcare for people with birth defects could be achieved arose, and this was accomplished over the next 65 years through the insight, hard work and dedication of a select group of people and organisations. In 2010 the World Health Organization prioritised services for the care and prevention of birth defects, particularly in middle- and low-income countries. Translating what has been achieved into human rights in healthcare for people with birth defects is the next objective.

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.

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 .

Objectives: Infant mortality has undergone a dramatic reduction in the UK over the past century because of improvements in public health policy and medical advances. Postmortem examinations have been performed at Great Ormond Street Hospital for over 100 years, and analysis of cases across this period has been performed to assess changing patterns of infant deaths undergoing autopsy., Design: Autopsy reports from 1909 and 2009 were examined. Age, major pathology and cause of death was reviewed from these cases and entered into an anonymized database. A subsequent comparative analysis was performed., Setting: All postmortems performed and reported at Great Ormond Street Hospital in 1909 and 2009., Participants: Infant deaths, aged 0-365 days, were identified and subsequently analysed for the two years., Main Outcome Measures: Comparative proportional analysis of postmortem findings from the two time periods., Results: Three-hundred and fifty-seven and 347 autopsy reports were identified from 1909 and 2009 including 178 and 128 infant deaths, respectively. The commonest cause of death in 1909 was infection (74%) compared to 20% of deaths in 2009. The most frequent final 'diagnosis' in 2009 was 'unexplained sudden unexpected infant death (SUDI)', despite a full postmortem including ancillary investigations. In contrast, there were no such cases recorded in 1909, but there were frequent deaths due to gastroenteritis and malnutrition together accounting for 16% of cases, compared to one case of gastroenteritis in 2009. Fifteen percent of 1909 cases had infections which are almost never fatal with appropriate treatment in 2009, including tuberculosis, diphtheria and syphilis. Congenital anomalies were detected with similar frequencies at both time points, (21% and 19% in 1909 and 2009, respectively)., Conclusion: In the UK, significant changes in patterns of pathology have occurred in paediatric autopsy cases performed at a single specialist centre. Fatal infections and malnutrition (both poverty-related) have reduced yet the incidence of congenital anomalies has remained similar.

Since antiquity philosophers and scientists tried to explain the cause of congenital malformations. In early modern medicine maternal imagination was largely accepted as their true cause, This concept was rejected by Blondel, a London physician. Around 1750 Wolff introduced the Hemmungsbildung as the cause of congenital malformations, a concept adopted in 1781 by Blumenbach. Later on Soemmerring (1784), Crichton (1785) and Meckel the younger adopted Blumenbach's concept. In 1824 Suringar further developed it. More and more the excessive development of fetal blood vessels or nerves was rejected as a possible cause, although from time to time these ideas were adopted again. In the early 1800s Etienne Geoffroy Saint-Hilaire (1811) and Vrolik (1817) developed a classification of monstra. These attempts urged Isidore Geoffroy Saint-Hilaire (Etienne's son) and Vrolik the younger (Gerard's son) to develop it further. Nevertheless, around 1840 Vrolik had to admit that although we are well acqainted with the various malformations, we are still ignorant of the primary cause of these phenomena. Meanwhile the dispute between the adherents of the theory of preformation and those who had adopted the concept of epigenesis exercised many minds. In the second half of the eighteenth century the latter theory became more and more adopted and this fact cleared the way for the ideas introduced by Wolff and Blumenbach, because it was consistent with the idea of a gradual development of fetal structures.

Exploring literary sources from the first century BCE up to the eleventh century CE, this article demonstrates how the history of disabilities in antiquity can go further than just collecting 'interesting case histories'. Using a model developed by Michel Vovelle, the sources are interpreted on different levels, taking into account both the cultural context in which the text arose and the intentions of the author.

Physicians have tried to explain the origins of birth defects since antiquity. In early humoralist models, fetal anomalies were most often understood in terms of quantity and quality of male and female seed. Maternal imagination was also considered a key environmental influence on fetal development from Hippocrates, Galen, and into late 17th century preformation.

Vein of Galen aneurysmal malformations are a mixed group of lesions characterized by an abnormal fistula between abnormal distal branches of the choroidal and/or posterior cerebral arteries and the great vein of Galen. In this paper the authors trace the historical evolution of the current approach to diagnosis and treatment, and the literature is reviewed comprehensively. During the historical era, vein of Galen malformations were described in individual case reports and an early classification system was developed. In the early era of treatment, open surgery was the preferred approach, although morbidity and mortality rates were high. The development of neurointerventional techniques allowed the introduction of occlusive materials into the fistula, with pronounced improvements in clinical outcome.

Since the late 70's, the increase of knowledge about the prenatal period and the use of new methods for the study of the newborn have changed the previous image of the baby and his competences, deepening and confirming the idea of a newborn/infant capable of having an active role in his interaction with the world. The precocious cure, which has given the parents and the family contest an important part in rehabilitation, must not be limited to the baby himself, but must be extended to the whole contest in which he lives, grows up and learns. This new opportunity has made the family have a role of prime importance in preventing childhood handicap.

"He had the form of a human being... His ears were as long as clusters of dates or elephant ears, and they covered his shoulders" ("The thousand and one nights", Sinbad the sailor, 546th night, circa IXth century AD). "About his ears, I shall tell you all the truth: They have the capacity of about 300 liters. When he is surprised by wind or tempest, He can immediately cover his head. He does not frighten the water at all, Even if it rained enormously during one full month. The other ear, he uses as a shield. It is hanging in front of his face up to his baldric. Thanks to his ears, he does not fear any feathered arrow, steel lame, or chiselled spear" (The ears of Isabras in "La Bataille Loquifer", or "Geste de Rainouard", from the "Geste de Guillaume d'Orange", XIIIth cent. "In that neighbouring isle, I heard someone saying that there were men whose ears were so big that they were able to cover their arms with them. That people are the Caphri".

This work is part of a more extensive, still ongoing, research which aims to provide a morphological assessment and interpretation of congenital malformations on ancient bones. The study of the frequency and distribution of congenital malformations on juvenile osteological remains may provide interesting insight and critical observations in assessing the role of those factors that are responsible for child's mortality. In the present study we describe and discuss two cases of congenital spinal malformation refer to failure in the separation of vertebral arch elements between contiguous vertebrae. The skeletons belonging to two children who died in early childhood, between 0 and 6 years of age. The research was conducted on 132 juvenile individuals came from nine necropolises located in north an middle Italy, from ancient and late Roman times to late medieval times.

Sir Denis Browne of the Hospital for Sick Children, Great Ormond Street, London, is regarded as the father of paediatric surgery in the United Kingdom. He made many important scientific and operative contributions, prominent among which were his studies on the origin and management of congenital deformities.

In this paper the skeletal sample from Osłonki near Włocławek (Kujawy region) is analysed. It is dated back to 4300-4000 B.C. The material consists of skeletal remains of 92 individuals (being one of the largest samples from the neolithic period in Poland). Skeletons were examined for the presence of congenital malformation, traumatic and degenerative changes, diseases of the masticatory system, and cribra orbitalia. Some interesting results have been achieved by comparing the incidences of diseases regarding sex groups: pathological alterations were observed with greater frequency in male than female skeletons.

The present essay analyzes an eighteenth-century phase of the querelle des monstres and highlights two main points. 1) As the cases of Lemery and Winslow demonstrate, in the period when preformation was the dominant view, the dispute over the origin of monsters carried into the very field of preformation the contrast which had originally opposed it to the now defeated model of epigenesis, namely the alternative between mechanical genesis and pre-existence of the monstrous form itself. 2) One of the most important episodes in the shift of teratology from a primarily theological or metaphysical issue to a purely natural one was due to Albrecht von Haller. Haller shifted the dispute from anatomy to embryology, and it is on an embryological base and not on metaphysics that he built his own demonstration of the original nature of the monster. He was furthermore the only scientist of authority who dealt with teratology from an epigenetic standpoint. His numerous changes of view in the field of embryology did in fact never affect his early adherence to the thesis of original monstrosity.

Galen on deformities--Galen's treatment of problems of deformities has its primary source in his twofold teleological conviction that nature acts purposefully and that the human organism and his parts serve their purposes in an optimal way. Thus he defines deformities as functionally deviant body parts. Operative therapy therefore is indicated only if an abnormal part of the body hinders its normal function. On the basis of scientific physiological concepts of his time Galen blames avoidable diatetic failures of the parents as causes of deformities. Galen's engagement on this point reveals the influence of his own experiences as a physician. Galen's statements on deformities show that his teleological concept of nature, his practical medical experience and scientific theories of his time enable him to draw fruitful theoretical and practical conclusions for matters of definition, indication for treatment and prophylaxis of deformities.

Recent examination of the Shanidar 3 remains revealed the presence of anomalous bilateral arthroses in the lumbar region. This paper describes this developmental anomaly, as well as several degenerative changes and offers potential etiologies. The Shanidar 3 remains represent an adult male Neandertal, approximately 35-50 years of age, dating to the Last Glacial. Although the partial skeleton is fragmentary, preserved elements include an almost complete set of ribs, portions of all thoracic vertebrae, all lumbar vertebrae, and the sacrum. Vertebral articulations from S1-T1 can be confidently assigned. The vertebra designated L1 is well preserved but lacks transverse processes. Instead, well defined bilateral articular surfaces, rather than transverse processes, are located on the pedicles. The skeletal elements associated with the anomalous L1 articulations were not recovered. The most likely interpretation is that the arthroses in question represent the facets for a 13th pair of ribs, a rare condition in modern hominid populations. Such lumbar developmental anomalies are an infrequent expression of a larger complex of cranial-caudal border shifting seen in the vertebral column. These shifts result in a change in the usual boundaries between the distinctive vertebral regions and are responsible for the majority of variability present in the vertebral column.

I discuss some of Leibniz's pronouncements about fringe phenomena--various monsters; talking dogs; genies and prophets; unicorns, glossopetrae, and other games of nature--in order to understand better Leibniz's views on science and the role these curiosities play in his plans for scientific academies and societies. However, given that Leibniz's sincerity has been called into question in twentieth-century secondary literature, I begin with a few historiographical remarks so as to situate these pronouncements within the Leibnizian corpus. What emerges is an image of Leibniz as a sober, cautious interpreter, a skeptic one might say but one who is prepared to concede the possibility of many strange phenomena. Leibniz expects these fringe phenomena to take their place among the natural curiosities catalogued as part of a hoped for empirical database intended as means toward the perfection of the sciences.

The congenital sternal fissure of Eugene Groux is outstanding in every respect: at first, it constitutes a sole case in history of medicine, for this fissure was complete (from the manubrium to the xiphoid process). Secondly, it was an object of medical examinations for over 2000 physicians all around the world. Thirdly, the patient himself wrote a monograph devoted to his malformation (1859). We analyze in this paper the monograph of Eugene Groux, as well as the anatomicomedical conclusions which followed this exceptional case.

The cultural topic of malformations is universal by its questionning. Malformations and inherited diseases have been observed and represented since Antiquity. These sculptures and pictures inform about mentalities and behaviours in front of severe birth defects. Dysmorphic syndromes can be identifiable, like achondroplasia, whereas others dwarfisms are arguable. Hermaphroditism has a cosmic meaning. Failing that rational explanation, major abnormalities were considered as monsters of supernatural origin.

The vases belonging to the Mochica civilization of the Precolombian period in Peru represent images that strongly recall pain and illness. In particular the anthropomorphic vessels show in a very realistic fashion severe facial lesions probably associated with different diseases such as cutaneous Leishmaniasis. The different types of leishmaniasis may, in fact, produce asymptomatic visceral, cutaneous, or muco-cutaneous infections, the latter causing remarkable facial deformities like those represented in the vascular production.

The present paper tries to study some of the basic rudiments that contributed to the change of paradigm about mental deficiency produced in the first decades of the XXth century. Taking as main sources the Binet and Simon's contributions from France, and the Sante de Sanctis' from Italy, it's analysed the construction of the category "abnormal childhood", relating it to the new and privileged space of observation that supposed the obligatory School. It concludes with a reflection about the fallacious use of the "intelligence" as "prejudice" in order to establish social taxonomies and meritocracies that they don't make but to justify the human inequality.

Irregularities of cranial suture closure resulting in scaphocephaly are documented for a number of prehistoric and historic human populations of the eastern and western hemispheres, but what may be the first recorded case from southern Asia appeared during the 1987 archaeological field season at the Indus Valley Civilization site of Harappa, Pakistan. The female specimen with this condition also exhibits indicators of developmental abnormalities in the postcranial skeleton. These features are discussed in the context of assessing anatomical and ontogenetical relationships of craniostenostic eccentricities with abnormalities of facial, dental and postcranial regions of the skeletons of scaphocephalic individuals.

In consideration of the experience that also in our present day society the development of a handicapped baby is understood by some as the visible result of a morally guilty behaviour of the parents, the present study raises the question, whether the identification of physical appearance and moral attitude has been in a certain historical epoch the preferred approach in science for understanding the origin of human malformations. After the treatment of the teratological theories in greek medicine and aristotelian natural philosophy the question of the origin of human malformation is examined in Pliny's "Historia naturalis" and Augustine's "De civitate dei". A comparison between the theories presented shows that the moral interpretation of human malformation is an inevitable consequence of the augustinian theological thinking.