[Morphologic and tomodensitometric comparative analysis of two cyclotocephalic newborns]. / Analyse morphologique et tomodensitométrique comparée de deux nouveau-nés affectés d'une cyclotocéphalie.

Two specimens of cyclotocephalic newborns, coming from museum collections, have been the subject of a comparative morphologic analysis. This one comprised an external examination and a CT scan exploration. If the craniofacial features were similar, one had a quasi-normal brain, while the second specimen displayed alobar holoprosencephaly. This observation relatively surprising is discussed in the light of current knowledge on the developmental genetics of this family of malformations.

The birth of a monstrous child throughout history: the example of anencephaly between the Egyptian New Empire and the 21st century.

Anencephaly is of special interest for the historical study of human behaviour after the birth of a monstrous child. Examples of anencephalic human births from Egyptian Antiquity to the present time allow us to create a history of teratology, revealing hiatuses in the medical and scientific interpretation of monstrosity that contrast to a relative continuity in the imaginary processes that accompany the birth of a monstrous child.

Medieval monsters, in theory and practice.

The past two decades have witnessed a plethora of studies on the medieval monster. These studies have contributed significantly to our understanding of religion, art, literature, and science in the Middle Ages. However, a tendency to treat the medieval monster in purely symbolic and psychological terms ignores the lived experiences of impaired medieval people and their culture's attitudes toward them. With the aid of recent insights provided by disability studies, this article aims to confront "real" medieval monsters--e.g., physically impaired human beings--in both their human and monstrous aspects.

Leonardo Da Vinci, the genius and the monsters. Casual encounters?

This article analyses Leonardo's interest in monsters and deformed reality, one of the lesser known aspects of his vast and multifaceted output. With the possible exception of his studies of physiognomy, relevant drawings, sketches and short stories represent a marginal aspect of his work, but they are nevertheless significant for historians of teratology. The purpose of this study is to provide a broad overview of the relationship between Leonardo and both the literature on mythological monsters and the reports on monstrous births that he either read about or witnessed personally. While aspects of his appreciation and attention to beauty and the pursuit of perfection and good proportions are the elements most emphasised in Leonardo's work, other no less interesting aspects related to deformity have been considered of marginal importance. My analysis will demonstrate that Leonardo approached the realm of monstrosity as if he considered abnormality a mirror of normality, deformity a mirror of harmony, and disease a mirror of health, as if to emphasise that, ultimately, it is the monster that gives the world the gift of normality. Two special cases of monstrosity are analysed: the famous monster of Ravenna, whose image was found among his papers, and a very rare case of parasitic conjoined twins (thoracopagus parasiticus) portrayed for the first time alive, probably in Florence, by Leonardo himself.

Diprosopia/dicephalia in calves in northern Italy: clinical and aetio-pathological features.

Cephalic parapagia, a rare congenital anomaly caused by the fusion of two monozygotic embryos, is characterized by a single body and a spectrum of duplication of craniofacial structures. The authors describe the clinical and pathological aspects of the parapagus conjoined twin defect in nine calves referred to the Department of Animal Pathology, Turin, between 1999 and 2009. The majority of the calves (eight cases) presented two snouts that shared three or four eyes (diprosopia); one calf presented two separate skulls fused at the foramen magnum (dicephalia). Bilateral inferior brachygnathia was observed in four calves. Post-mortem examination of the skull revealed complete brain duplication with fusion at the caudal portion of the brainstem in all calves. Histological features of the cerebral hemispheres and brainstem were normal; moderate disorganization of the cerebellar cortex was noted in two cases. Cardiac malformations were observed in three calves. No aetiologic cause was determined. This article underscores the importance of diprosopia in cattle species and suggests the need for more detailed investigations to better understand its pathogenesis.

A rare case of globosus amorphus in a goat.

We present a case of globosus amorphus delivered from a goat and subjected to radiography and histological examination. Radiography revealed a lack of development of any organ system; histological sections showed evidence of lymphoid aggregations, mononuclear infiltrations, blood capillaries, and dense fibroblasts.

Dichorionic triamniotic triplet pregnancy complicated by acardius acormus.

This report describes an acardiac fetus of the acormus phenotype in a triplet pregnancy. The diagnosis was confirmed at 15 weeks. In the absence of signs of heart failure in the co-fetus the pregnancy was managed conservatively. The pregnancy was complicated by preterm labour and the fetuses were delivered at 26+5 weeks. The prenatal diagnosis of the acormus phenotype with a well-developed cephalic pole is extremely rare and has never been described antenatally in a higher order multiple pregnancy. We suggest that this rare acardiac fetus phenotype may have a different pathophysiology than those of other phenotypes. The report also summarizes the perinatal outcomes of triplet pregnancies complicated by an acardiac fetus, where the median gestational age at delivery is 26-27 weeks, and discusses the possible therapeutic interventions.

Acardiac fetus: evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting.

BACKGROUND: The acardiac human fetus represents an accident of monozygotic twinning or higher multiple births due to an artery-to-artery and a vein-to-vein anastomosis in the monochorial placenta. Blood returning to the placenta through the umbilical artery of a normal cotwin is directed into the umbilical artery of the acardiac twin such that blood reaching the cranial end of the embryo is likely to be poorly oxygenated resulting in a number of structural defects including oral clefts. Although retrograde perfusion as a cause of hypoxia is unique to the acardiac fetus, there is ample evidence from animal studies that hypoxia is associated with facial clefting. METHODS: Twenty-six acardiac fetuses were examined at UCSD Medical Center between 1974 and 2003. RESULTS: In 12 of the 26, the cephalic end of the fetus was sufficiently intact to document the structures of the face. Of these, cleft lip +/- palate was present in five and cleft palate alone was present in one. In all six, the oral cleft followed the normal planes of facial closure. The cotwin in all six cases was normal. CONCLUSIONS: This article suggests that decreased blood flow/hypoxia to the cephalic end of the fetus may be an important contributor to the development of cleft lip +/- palate and cleft palate alone in the acardiac fetus and raises the possibility that this may also be a mechanism responsible for oral clefting in singletons.

Acardiac twin presenting as fetus amorphous with an attenuated umbilical cord.

Acardiac anomaly sequence is a rare malformation cluster occurring in the setting of monozygotic monochorionic twin pregnancies. In addition to an absent heart (acardia), variable degrees of somatic developmental disruption are present. We describe an extreme example of what we believe to be acardiac twinning, with almost complete absence of gross tissue organization but recognizable microscopic evidence of body-axis establishment and organ formation. The case is also notable for the absence of a grossly identifiable umbilical cord, with attachment to the placental vasculature by 2 vessels invested by amnion but without Wharton's jelly. We discuss the controversy regarding the requirement of an umbilical cord in the definition of acardiac twin and distinguish this case from placental teratoma.

Holoprosencephaly in Mexico: first reported autopsy case by Dr. Agustín Arellano.

INTRODUCTION: Holoprosencephaly with cyclocephaly is an early disturbance of organogenesis and has been classified as a severe brain malformation starting in 1755 by Eller in Germany, then in 1822 by Etienne Geoffroy de Saint-Hilaire in France, and finally in 1828 by Tiedemann in Germany. In 1839, Dr. Arellano published in Mexico a necropsy case of holoprosencephaly. This was the fourth publication worldwide on this kind of pathological alteration. Furthermore, in reference to diaphragmatic herniation, Arellano's paper is the fourth world report, having appeared 9 years before Bochdalek's publication. We have not found any other report that appeared before 1839 in the Americas on this particular malformation, and we consider that Arellano's paper was the first of its kind on the American continent. CONCLUSION: As is well known, the publications of this Mexican medical researcher were, for his time, at the level of those of the most developed countries. It is also important to know that the medical journal where Arellano's work was published, the "Periódico de la Academia de Medicina de Mégico(sic)," founded and directed by Dr. Manuel Carpio in 1836, is the direct forerunner of the present Gaceta Médica de México, the oldest currently published journal in the Americas.

Acardiac twin fetus with severe hydrops fetalis and bilateral talipes varus deformity.

Twin reversed-arterial-perfusion syndrome (TRAPS) is a rare complication of monochorionic twin pregnancies. TRAPS is characterized by the hemodynamic dependence of a "recipient" twin from a "pump" twin. The "recipient" twin exhibits lethal abnormalities, such as acardia and acephaly. Circulatory failure of the normal twin derives from the existence of arterio-arterial and veno-venous anastomoses within the placenta that allow retrograde perfusion of the acardiac twin by blood coming from the normal twin. Acardiac twinning is the most extreme manifestation of the twin-twin transfusion syndrome. This occurs in 1 in 100 monozygotic twin pregnancies and 1 in 35,000 births. We report a case of diamnionic monochorionic female twins in which the acardiac twin demonstrated severe hydrops fetalis and bilateral talipes varus deformity. Cesarean section was performed on a 27-year-old hypertensive gravida 2, para 1 mother for fetal indications at 32 6/7 weeks gestation. The acardiac fetus had a two-vessel umbilical cord measuring 43.5 cm in length and 0.8 cm in diameter. The proximal end inserted into the root of the normal twin's umbilical cord in an acute angle forming a "v" close to the placental disc. Structures rostral to the thorax were absent except for a round mass of flesh with three small buds in place of the head and neck, and bilateral upper extremities. Only the kidneys, right adrenal, small and large intestine, and rudimentary urinary bladder were present. Both feet demonstrated talipes varus deformity. The fetus was severely hydropic. The subcutaneous fat measured 4.5 cm in maximum thickness. The normal twin had a protracted course complicated with respiratory distress syndrome, moderate secundum atrial septal defect with left to right shunt, and thrombocytopenia of prematurity. The baby was eventually discharged after approximately 1 month. At the time of this report, 5 months postpartum, the neonate is growing and developing normally. To our knowledge, this is the first report of severe hydrops fetalis and talipes varus deformity in an acardiac twin.

Acardiac twin: an unusual case report.

Acardiac twinning is a rare anomaly .75% of cases occurring in monzygotic triplet pregnancies and the rest in monozygotic twins. We report an antenatally undiagnosed case of acardius amorphous. The condition results from abnormal placental vascular anastomoses termed as twin reversed arterial perfusion (TRAP) theory. Early sonographic prenatal diagnosis improves the survival of the normal twin called the pump twin.

Fetus amorphous acardious: report of a rare case and differential diagnosis from placental teratoma with review of the literature.

Fetus amorphous acardious is a rare fetal malformation, lacking a functional heart and bearing no resemblance to human embryos. The main differential diagnosis is with placental teratoma and is based on the degree of skeletal organization and umbilical cord formation. A 27-year old woman delivered a healthy newborn at 37 weeks' gestation. An amorphous mass, covered with healthy looking skin, was connected to the placenta with a short pendicle. X-ray examination of the mass revealed the presence of vertebral column associated with ribs and pelvic bones. Histopathologic examination demonstrated the presence of spinal tube inside the vertebral column. Microscopy of the pedicle was consistent with umbilical cord. Various other tissues were also discovered, such as adipose tissue, gastric and large.

Partial duplication of head--a rare congenital anomaly.

Duplication of notochord results in rare congenital anomalies like double headed monsters, with or without trunk/limb duplication, depending upon the extent of notochordal abnormality. Here we describe the morphological abnormalities in a case of partial duplication of cranial structures with fusion of the two. Autopsy findings suggest that the bifurcation of the neural tube took place around 4th to 6th week of gestation. There are only few reports in English literature describing the autopsy findings of such an anomaly, which is termed as Diprosopus triophthalmus in the modern literature.

Neuropathological and anatomopathological analyses of acardiac and "normal" siblings in an acardiac-twin pregnancy.

Acardiac twinning is a very rare complication of multiple pregnancy. The authors present the neuropathological and anatomopathological description of the twins of the multiple pregnancy complicated by the acardiac foetus and terminated at 26 weeks of gestation. An anatomopathological examination of the "normal" twin showed hyaline membrane syndrome, cardiomegaly and hepatomegaly. Neuropathologically, numerous hypoxic-ischaemic lesions, most likely associated with haemodynamic disorders during pregnancy as well as less pronounced perinatal changes were revealed. The acardiac foetus, classified as acardius acephalus, demonstrated the presence of some abdominal organs and a histologically well-developed spinal cord. In view of the neuropathological changes, monitoring "normal" twins for discreet pathological central nervous system signs, which may be similar in character to those described, may play a significant role.