A case of dwarfism in 6th century Italy: Bioarchaeological assessment of a hereditary disorder.

OBJECTIVE: The skeletal remains of a short-statured individual (T17) are described and a differential diagnosis performed to determine the etiology of the condition. MATERIALS: An individual considered pathologically short in stature was discovered in the burial site of Piazza XX Settembre, Modena (northern Italy). METHODS: Morphological and morphometric analyses were performed, and T17 was compared to dwarfs from other localities and periods and to the adult female population from the same site. A paleopathological survey was undertaken to assess the degree of the skeletal elements of T17 were affected. RESULTS: T17 was a female, 20-30 years of age at death, with a stature of 128 cm and disproportionate dwarfism associated with congenital skeletal dysplasia. CONCLUSIONS: T17 likely affected by a form of hypochondroplasia. SIGNIFICANCE: Anatomical consequences of hypochondroplasia are presented, and the timeframe and associated burial goods suggest a 6th-century Lombard short stature belonging to one of the earliest Lombard settlements in Italy. SUGGESTIONS FOR FURTHER RESEARCH: Future genetic analysis would resolve if the mutation in the type 3 fibroblast growth factor receptor (FGFR3) is present in the remains of T17; however, it is not exclusivly linked to hypochondroplasia.

Girolamo Fabrici d'Acquapendente and the Oplomochlion: The Several Applications of an Effective Rehabilitation Tool.

Girolamo Fabrici d'Acquapendente (1533-1619) was an Italian anatomist, surgeon and physiologist and a protagonist of the scientific revolution of the Renaissance. He made anatomy a scientific discipline and is justly considered a precursor of modern orthopaedics. He invented and used several external corrective devices for the treatment of congenital and acquired deformities of the limbs and spinal column, especially those following tubercular infection and rickets, torticollis, vertebral caries kyphosis, scoliosis, and rachitic deformities of the leg, but also congenital dislocation of the hip and congenital club-foot. He ascribed the pathogenesis of the equinovarus supinated foot to the position taken by the foot of the fetus during intrauterine life. The Oplomochlion, shown in the Operationes chirurgicae and attributed to Fabrici, is actually a collection of very diverse orthotic, prosthetic and surgical metal instruments invented by Fabrici and arranged with a demonstrative purpose and a topographic criterion, as if on an exhibition dummy.

Limb body wall complex - the history of the entity and presentation of our series of cases.

We present an analysis of two first historically documented limb body wall complex (LBWC) cases and our own contemporary perinatal autopsy series of this rare complex. So far it was supposed that the first case of this complex was reported in 1685 by Paul Portal. Studying the Joachim Oelhaf's autopsy report from 1613 with attached engraving showing the neonate with multiple birth defects led our research team to a conclusion that it was genuinely the first description of LBWC in the medical literature so far. We compared the Oelhaf's case from 1613 and the Portal's autopsy report from 1685 with our series of LBWC cases dissected in the Medical University of Gdansk between 1999 and 2011. Reviewing 1100 autopsy reports performed we encountered 9 cases of this unique complex. The analysis was supported by the literature review.

Epidemiology of limb reduction defects as registered in the Medical Birth Registry of Norway, 1970-2016: Population based study.

BACKGROUND: Following the Thalidomide disaster, the Medical Birth Registry of Norway (MBRN) was established in 1967, with epidemiological surveillance of congenital anomalies as one main aim. Limb reduction defects (LRD) constitute a rare and heterogeneous anomaly group, where correct registration and classification is important for surveillance and research. We aimed at reviewing and recoding LRD cases in the MBRN using the same classification system for all years, and evaluate time trends, characteristics and risk factors, 1970-2016. METHODS: After reviewing and recoding LRD cases using International Classification of Diseases (ICD), 10th version, for all years, time trends, association with major anomalies, risk factors and infant outcomes were calculated. Generalized linear models for the binomial family with log link gave relative risks (RR) with 95% confidence intervals (CI). Classification of LRD as suggested by European surveillance of congenital anomalies (EUROCAT) was attempted. RESULTS: Overall LRD prevalence, 1970-2016, was 4.4 per 10 000, slightly increasing during 1970-1981, followed by relatively stable rates. There were more defects in upper than lower limbs. Defects in hands/fingers were most common, but unspecific descriptions prevented classification of LRD according to EUROCAT. A majority of cases had associated anomalies, the most common being other limb defects, followed by cardiac defects and anomalies in the nervous and digestive systems. From 1999, 26% of LRD cases were terminated, more than 90% of these had associated major anomalies. Stillbirth, neonatal and infant mortality were higher among infants with LRD, also related to associated anomalies. Pre-gestational diabetes was associated with a more than three times increased risk of offspring total LRD, while no association with maternal epilepsy was found. Taking folate/multivitamin supplements before and/or during pregnancy was associated with lower risk of offspring LRD (adjusted RR 0.7; 95% CI 0.6-0.9), while daily smoking did not significantly increase the risk. CONCLUSION: The MBRN now has information on LRD coded by ICD-10 from 1970, but information is not specific enough to use other recommended classification systems. Collecting radiographic descriptions and/or more details from hospital records would improve the quality of the registry data. Taking folate supplements before/during pregnancy may reduce the risk of offspring LRD.

Congenital orthopaedic limp deformities in Corpus Hippocraticum.

During the fifth century BC in ancient Greece during the eve of orthopaedics, the Hippocratic School of Medicine diagnosed a series of congenital limb deformities. Congenital dislocation of the arm, elbow, wrist, hip, knee, tarsotibial joint, apex leg, as well as talipes valgus (clubfoot), congenital clavicle fractures, and thumb malfunction were all discussed by Hippocrates and his followers. Ancient Greek medico-philosophers, fond of a "perfect" human body, proposed an immediate non-interventional approach, while archaic orthotics and specialized footwear were suggested. The Hippocratic methodology was once more re-emerged in the sixteenth century by Ambroise Paré and in the nineteenth century by Wilhelm Roser, becoming since then the main principle for the confrontation of congenital deformities. Various surgeons until nowadays are still being influenced by the Hippocratic doctrine.

Congenital anomalies of the limbs in mythology and antiquity.

Congenital anomalies of the limbs have been observed since ancient human civilizations, capturing the imagination of ancient physicians and people. The knowledge of the era could not possibly theorize on the biologic aspects of these anomalies; however, from the very beginning of civilization the spiritual status of people attempted to find a logical explanation for the existence of such cases. The next logical step of the spiritual and religious system of the ancients was to correlate these anomalies with the Gods and to attribute them to a different level of existence in order to rationalize their existence. In these settings, the mythology and religious beliefs of ancient civilizations comprised several creatures that were related to the observed congenital anomalies in humans. The purpose of this historic review is to summarize the depiction of congenital anomalies of the limbs in mythology and antiquity, to present several mythological creatures with resemblance to humans with congenital anomalies of the limbs, to present the atmosphere of the era concerning the congenital anomalies, and to theorize on the anomaly and medical explanation upon which such creatures were depicted. Our aim is to put historic information in one place, creating a comprehensive review that the curious reader would find interesting and enjoyable.

The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980-2012 with a review of risk factors and familial cases.

Prevalence rates of amnion rupture sequence, limb body wall defect, and body wall defects vary widely. Comparisons are difficult due to small case numbers and the lack of agreement of definition, classification, and pathogenesis. This study reports the prevalence of cases classified in five distinct categories. The Alberta Congenital Anomalies Surveillance System data on live births, stillbirths, and terminations of pregnancy (<20 weeks gestation) occurring between 1980 through 2012 with the ICD-10 Royal College of Paediatrics and Child Health Adaptation codes used for congenital constriction bands (Q79.80) and body wall complex (Q89.7) were reviewed. During the 33-year-study period, there were 153 eligible cases ascertained from 1,411,652 live births and stillbirths, giving a prevalence of 1.08/10,000 total births. There were more males (52%) than females (45%) and 3% were of unknown sex. The average maternal age, birth weight, and gestation was 27 years, 2,701 g, and 35 weeks, respectively. Limb deficiencies occurred in 78% of cases. Amniotic bands with limb deficiency was the most common phenotype (48%). Digital limb deficiency was the most frequent type (56%); however, cases with body wall defects had more severe types of limb deficiencies. The upper limbs only were affected more times (44%), and there was no side preference. Most cases are sporadic but a number of familial occurrences have been reported although some have insufficient documentation and others misdiagnosed. A review of putative risk factors gives conflicting results. © 2016 Wiley Periodicals, Inc.

The first radiographic image of a peripheral nerve disorder? Lipomatous macrodactyly (unrecognized lipomatosis of nerve).

Lipomatosis of nerves (LN) involves benign fibro-fatty infiltration and is often associated with territorial overgrowth of soft tissue and bone; this distinctive disease pattern can be visualized on plain radiographs. We recently discovered a case (presented by Sir Robert Jones in 1898 to the Pathological Society of London) that indirectly represents a historical landmark in the imaging of peripheral nerves. The clinical findings and image, with obvious soft tissue and bone overgrowth, are pathognomonic for LN, making this one of the earliest radiological observations of a peripheral nerve lesion.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a historical perspective.

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.

[Thalidomide epidemics: 50 years after]. / Thalidomidová epidemie - 50 let poté

Thalidomide tragedy and the subsequent epidemics of congenital anomalies is one of the most tragic but also enlightening chapters in the history of modern medicine. Many thousands of children were born with various anomalies - especially with limb deformities - because of the mass usage of thalidomide by pregnant women. The numbers of the spontaneous abortions and fetal deaths will remain unknown forever. In year 2012 we have a sad 50th anniversary of final recognition of thalidomide teratogenous potential. The causes of this tragedy and subsequent actions are summarized in our text.Key words: thalidomide, teratogenesis, congenital anomalies.

CHILD syndrome avant la lettre.

The CHILD syndrome is an acronymic designation for congenital hemidysplasia with ichthyosiform nevus and limb defects. This X-linked dominant, male-lethal trait is caused by mutations in the gene NSDHL that is localized at Xq28 and involved in cholesterol metabolism. The CHILD nevus that constitutes a hallmark of this multisystem birth defect usually shows a striking lateralization pattern. Until now, a report of Zellweger and Uehlinger from 1948 was believed to represent the first published case of CHILD syndrome. However, we have now found an earlier report published in 1903 by Otto Sachs. An 8-year-old girl had a "xanthoma-like nevus" involving the right axillary region and a congenital muscular weakness of the right upper arm. Sachs described the clinical and histopathological features of CHILD nevus comprehensively, including the characteristic changes of verruciform xanthoma that can be taken within the group of epidermal nevi as a pathognomonic feature of CHILD nevus. This report is the earliest description of CHILD syndrome known so far. Moreover, Sachs presented in this article a comprehensive description of verruciform xanthoma, thus anticipating Shafer's "first report" of this histopathological phenomenon (1971) by almost 70 years.