Manolis J. Papagrigorakis

De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case. Conclusion:the current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.

Improvement of facial appearance and nocturnal breathing with geniotomy (sliding genioplasty): report of two cases.

ABSTRACTThis article reports on two cases of nonobese female patients who presented in an orthodontic practice complaining of dental malocclusion and facial dysharmony. Because of the observed clinically and radiographically extreme mandibular retrognathia, they were referred for a sleep study and were found to have mild sleep apnea. Surgery in the form of advancement geniotomy was offered to relieve their retroglossal obstruction, improve their nocturnal sleep, and simultaneously address their facial esthetic concerns. Advancement geniotomy is useful for sleep apneic patients with exclusively retroglossal obstruction secondary to mandibular retrognathia.

Facial reconstruction of an 11-year-old female resident of 430 BC Athens

Although modern standards of ideal proportions and facial esthetics are based mostly on observations of human faces as depicted in Classical Greek masterpieces of art, the real faces of ordinary ancient Greeks have, until now, remained elusive and subject to the imagination. Objective forensic techniques of facial reconstruction have never been applied before, because human skeletal material from Classical Greece has been extremely scarce, since most decent burials of that time required cremation. Here, the authors show stage by stage the facial reconstruction of an 11-year-old girl whose skull was unearthed in excellent condition from a mass grave with victims of the Plague that struck Athens of 430 bc. The original skull was replicated via three-dimensional modeling and rapid prototyping techniques. The reconstruction followed the Manchester method, laying the facial tissues from the surface of the skull outward by using depth-marker pegs as thickness guides. The shape, size, and position of the eyes, ears, nose, and mouth were determined according to features of the underlying skeletal tissues, whereas the hairstyle followed the fashion of the time. This is the first case of facial reconstruction of a layperson residing in Athens of the Golden Age of Pericles. It is ironic, however, that this unfortunate girl who lived such a short life in ancient Athens, will now, 2500 years later, have the chance to travel and be universally recognizable in a world much bigger than anybody in ancient Athens could have ever imagined.

Neurosurgery During the Bronze Age: A Skull Trepanation in 1900 BC Greece

OBJECTIVE Paleoneurosurgery represents a comparatively new developing direction of neurosurgery dealing with archaeological skull and spine finds and studying their neurosurgical aspects. Trepanation of the cranial vault was a widespread surgical procedure in antiquity and the most convincing evidence of the ancient origin of neurosurgery. The present study considers a case of trepanation from the Middle Bronze Age Greece (1900-1600 B.C.). METHODS The skull under study belongs to skeletal material unearthed from Kirra, Delphi (Central Greece). Macroscopic examination and palpation, as well as three-dimensional computed tomography, were used in this study. RESULTS There is osteological evidence that the skull belongs to a man who died at 30-35 years of age. The procedure of trepanation was performed on the right parietal bone. Both macroscopic and computed tomography evaluation demonstrate an intravital bone reaction at the edges of the aperture. Projected on the right surface of the brain, the trepanation is located on the level of the central groove. The small dimensions and the symmetrical shape of this hole give us an indication that it was made by a metal tool. CONCLUSION We conclude that this paleopathological case provides valuable information about the condition of life and the pre-Hippocratic neurosurgical practice in Bronze Age Greece.

Paleopathological findings in radiographs of ancient and modern Greek skulls

ObjectiveThe skull, when portrayed radiologically, can be a useful tool in detecting signs of systemic diseases and results of pathological growth mechanisms. The aim of this study was therefore to examine, compare, and classify findings in cranial configuration of pathological origin, in modern and ancient skulls.Materials and methodsThe material consists of 240 modern and 141 ancient dry skulls. Three radiographs for each skull (lateral, anteroposterior, basilar) provide enough evidence for differential diagnoses.ResultsCases of osteoporosis are among the interesting pathological findings. A prevalence of female modern skulls in those determined as osteoporotic skulls is noted. Special interest is placed on the area of the sella turcica and many variations, regarding the shape and texture, are recognized both in ancient and modern skulls. Malignancies and important causes of cranial destruction are identified in both skull collections. Diploid thickening and osteolytic areas appear commonly among ancient remains. Moreover, from the ancient skull collection, one case possibly recognizable as fibrous dysplasia is noted while another case with an unusual exostosis gives rise to many questions.ConclusionsInterpreted with caution, the results of the present study, which can serve as an approach of paleopathology and paleoradiology, indicate similarity trends in cranial configuration of pathologic origin in modern and ancient people. Radiography and cephalometry were the main diagnostic tools used to gather evidence and are evaluated as a quite appropriate method to examine anthropological material and assess the internal structure of skeletal remains since they are non-destructive techniques.

Auriculo-condylar syndrome

The auriculo-condylar syndrome is caused by abnormalities of the first and second pharyngeal arches during embryonic development. Its inheritance follows the autosomal dominant pattern. Both familial and individual cases are reported in the literature. The syndrome is characterized by wide phenotypic variation, with affected individuals expressing clinical signs of variable severity due to variable expressivity of the responsible genes. Clinical signs of the syndrome include auricular malformation, hypoplasia of the mandibular condyles, anomalies of the temporomandibular joints, malocclusion, and, in more severe cases, cleft palate, glossoptosis, facial asymmetry, and respiratory problems. The aim of this article is to report a case of a female patient with signs of the auriculo-condylar syndrome and to present the pedigree of her family. Clinical findings, diagnosis, treatment plan, and final treatment are analyzed.

Typhoid Fever Epidemic in Ancient Athens

Molecular evidence, resulting from investigation and analysis of ancient DNA, has identified the presence of Salmonella enterica serovar Typhi in victims of the Plague of Athens, thereby incriminating typhoid fever as a likely cause of the epidemic. Current clinical and epidemiological scientific data, related to modern-day typhoid, correlate well to the signs and symptoms of the disease as Thucydides has described them, whereas their apparent differences may be reasonably explained. The most striking hypothesis is that the ancient S. typhi strain may constitute the ancestral original strain of the pathogen, capable of affecting both human and animal hosts. The genomic evolution of the ancient Salmonella typhi strain over time may provide a satisfactory explanation for the diminished morbidity and the vary- ing clinical symptomatology of modern-day typhoid fever. Further investigations, implementing DNA sequencing techniques of the ancient strain of S. enterica, may elucidate its genetically determined differences from its modern counterpart, thus facilitating new approaches to preventing or treating typhoid fever epidemics.

The Plague of Athens: An Ancient Act of Bioterrorism?

Recent data implicate Salmonella enterica serovar Typhi as a causative pathogen of the Plague of Athens during the Peloponnesian War (430-426 bc). According to Thucydides, the sudden outbreak of the disease may link to poisoning of the water reservoirs by the Spartans. The siege of a city was aimed at exhausting the supplies of a population, which often led to the outbreak and spread of epidemics. Poisoning of the water reservoirs of a besieged city as an act of bioterrorism would probably shorten the necessary time for such conditions to appear.

Long-term surgical cure of severe obstructive sleep apnea in an adult patient with craniofacial dysostosis (Crouzon’s syndrome): a case report and literature review

Craniosynostosis is a term used to describe the premature fusion of isolated or multiple cranial vault and cranial base sutures. Most cases of craniosynostosis appear de novo and are therefore primary. Primary craniosynostosis may be “simple,” when one or two cranial vault sutures are involved, such as the metopic, coronal, sagittal, and/or lambdoid sutures. In contrast, the term “syndromic” craniosynostosis (craniofacial dysostosis) describes familial forms of synostosis involving not only the cranial vault but various cranial base and midface sutures as well. In addition to premature suture fusion leading to cranial and facial dysmorphism, the various craniofacial dysostosis syndromes are characterized by a series of extracranial manifestations (e.g., cardiac, genitourinary, and musculoskeletal) of variable phenotypic severity. Familial types of craniofacial dysostosis were described by Apert in 1906, Crouzon in 1912, and Pfeiffer in 1964 [1, 2]. The common molecular denominator in the craniofacial dysostosis syndromes are mutations in the fibroblast growth factor receptor (FGFR) genes 1 to 3, which occur sporadically, but with one of the highest frequencies in the human genome and may be subsequently genetically transferred with an autosomal dominant mode of inheritance [1]. Crouzon’s syndrome is characterized by a broad variability in the severity of craniosynostosis with the coronal suture nearly always bilaterally involved (95% of cases), mostly in association with the sagittal and lambdoid sutures (75% of cases) or only the sagittal suture (20% of cases) [3]. In addition to cranial vault synostosis, there is an effect on the anterior cranial base and facial sutures which results in a variable degree of symmetric hypoplasia of the orbits, zygomas, and maxilla. The mandible has normal growth but may become secondarily deformed with an obtuse ramus/inferior border angle and a vertically long chin. In general, the soft tissue envelope is normal except for a variable degree of upper eyelid ptosis and inferiorly positioned lateral canthi. In patients with classical findings, the cranial vault is either brachycephalic or oxycephalic, the orbits are shallow with proptotic eyes, and the midface is flat with an Angle class III malocclusion. Nasal airflow is diminished with partial obstruction, and a mouth-breathing pattern is common [2]. The Crouzon phenotype does not have as significant extracranial skeletal manifestations as the related Apert and Pfeiffer phenotypes. Brain malformations are infrequent, and mental retardation is rare, distinguishing this syndrome from other syndromes with M. Papagrigorakis (*) Department of Orthodontics, University of Athens School of Dentistry, 2 Thivon Street, 11527 Athens, Greece e-mail: demon@otenet.gr

Craniofacial morphology in ancient and modern Greeks through 4,000 years

BACKGROUND Multiple 20th century studies have speculated on the anthropological similarities of the modern inhabitants of Greece with their ancient predecessors. The present investigation attempts to add to this knowledge by comparing the craniofacial configuration of 141 ancient (dating around 2,000-500 BC) and 240 modern Greek skulls (the largest material among relevant national studies). METHOD Skulls were grouped in age at death, sex, era and geographical categories; lateral cephalograms were taken and 53 variables were measured and correlated statistically. The craniofacial measurements and measurements of the basic quadrilateral and cranial polygon were compared in various groups using basic statistical methods, one-way ANOVA and assessment of the correlation matrices. OBSERVATIONS Most of the measurements for both sexes combined followed an akin pattern in ancient and modern Greek skulls. Moreover, sketching and comparing the outline of the skull and upper face, we observed a clock-wise movement. The present study confirms that the morphological pattern of Greek skulls, as it changed during thousands of years, kept some characteristics unchanged, with others undergoing logical modifications. CONCLUSION The analysis of our results allows us to believe that the influence upon the craniofacial complex of the various known factors, including genetic or environmental alterations, is apt to alter its form to adapt to new conditions. Even though 4,000 years seems too narrow a span to provoke evolutionary insights using conventional geometric morphometrics, the full presentation of our results makes up a useful atlas of solid data. Interpreted with caution, the craniofacial morphology in modern and ancient Greeks indicates elements of ethnic group continuation within the unavoidable multicultural mixtures.