Did Blaise Pascal have autism spectrum disorder and a genetic predisposition for skull deformities?

Many world-renowned scientists and artists had autism spectrum disorder (ASD). We suggest that the French mathematician and physicist Blaise Pascal (1623-1662) also had ASD. As a boy, he demonstrated his mastery of language, mathematics and science. He showed single-mindedness and obsessive interests in the pursuit of science in his younger years and later he pursued with religion with the same determination. Pascal neglected social interactions; he was cold and aloof and had an obsessive revulsion to any expression of emotional attachment. As shown by his funerary mask and the autopsy report Pascal had craniosynostosis (primary nonsyndromic oxycephaly) with atrophy of the right half of the face. Congenital facial asymmetry due to craniosynostosis has a genetic basis. This suggests that Pascal's facial deformity may betray his propensity to suffer from genetically determined diseases including ASD. Despite the intrinsic limitations of a diagnosis based only on biographical information, we surmise that Pascal had the three key symptoms (obsessive interests, difficulty in social relationship and problems in communicating) that characterize ASD individuals.

Altered shapes, same people: Scaphocephaly in the early modern Bucharest.

Premature sagittal suture synostosis was identified in eight specimens dated between the 18th and 20th centuries CE, of which seven are kept within the Rainer Osteological Collection in Bucharest and one was retrieved from the archaeologically investigated Saint Sava Church Cemetery. Our study focused on metric measurements, aiming to compare these specimens with three other samples comprising normal and scaphocephalic individuals, with both a Romanian and worldwide distribution. In total, 374 individuals were used in this study. However, although metric measurements clearly show that these individuals were different in their appearance, the socio-cultural data point to them being normal members of the society, as suggested by the funerary features of the archaeological specimens and their position within the Rainer Osteological Collection.

Paul Broca's search for Basque skulls: The full story.

Paul Broca surmised that the short and broad-brachycephalic-skulls of the earliest European settlers had become longer and narrower-dolichocephalic-in modern populations due to the blending of different races. Swedish anatomist Anders Retzius had two brachycephalic skulls said to be from contemporary Basque individuals, a claim suited to test Broca's hypothesis. Broca worked with fellow anatomist and surgeon Pedro González Velasco, the founding father of Spanish anthropology, to gather a large number of Basque skulls. In its time, this was the most fascinating collection owned by the Anthropological Society of Paris. This article explains how Broca and Velasco were able to gather such a sizeable array of specimens, which they had collected at a location known at first by the code name of "Z." Although Broca finally concluded that the origin of the Retzius skulls could not be determined, his research was to spark anthropologists' interest in the language and origins of the Basque people.

A case of unilateral coronal synostosis from Medieval Hungary (9th century A.D.).

A unique single suture craniosynostosis case from the 9(th) century is presented in this paper. Although craniosynostosis is a fairly common pediatric anomaly nowadays, its occurrence in archaeological collections is an uncommon precedent. Since the diagnosis and treatment of premature cranial suture closure usually happens at an early age, evaluation of the whole developmental process is a rare opportunity. The right-sided coronal suture synostosis of this 30-35 years old woman gives an interesting opportunity to observe the effect of this phenomenon in adulthood. Only slight distortion of the viscerocranium and no bony signs of elevated intracranial pressure can be seen on the skull. The women suffered remarkable bending of the whole face and cranial base of the midsagittal plane. Besides the aesthetic disorder, the condition might have contributed to a chronic headache and visual disturbances. The lack of any other typical symptom suggests the diagnosis of isolated craniosynostosis or a milder type of syndromic craniosynostosis, the possibility of an underlying causative mutation cannot be ruled out.

Skull deformations in craniosynostosis and endocrine disorders: morphological and tomographic analysis of the skull from the crypt of the Silesian Piasts in Brzeg (16th-17th century), Poland.

RESULTS: of morphological and tomographic (CT) studies of the skull that was found in the crypt of the Silesian Piasts in the St. Jadwiga church in Brzeg (Silesia, Poland) are presented and discussed here. The established date of burial of probably a 20-30 years old male was 16th-17th century. The analyzed skull showed premature obliteration of the major skull sutures. It resulted in the braincase deformation, similar to the forms found in oxycephaly and microcephaly. Tomographic analysis revealed gross pathology. Signs of increased intracranial pressure, basilar invagination and hypoplasia of the occipital bone were observed. Those results suggested the occurrence of the very rare Arnold-Chiari syndrome. Lesions found in the sella turcica indicated the development of pituitary macroadenoma, which resulted in the occurrence of discreet features of acromegaly in the facial bones. The studied skull was characterized by a significantly smaller size of the neurocranium (horizontal circumference 471 mm, cranial capacity ∼ 1080 ml) and strongly expressed brachycephaly (cranial index=86.3), while its height remained within the range for non-deformed skulls. A narrow face, high eye-sockets and prognathism were also observed. Signs of alveolar process hypertrophy with rotation and displacement of the teeth were noted. The skull showed significant morphological differences compared to both normal and other pathological skulls such as those with pituitary gigantism, scaphocephaly and microcephaly.

Odilon Marc Lannelongue (1840-1911) and strip craniectomy for craniosynostosis.

In the 19th century, Dr. Odilon Marc Lannelongue was a pioneering French surgeon who introduced a surgical technique for the treatment of craniosynostosis. In 1890, Dr. Lannelongue performed correction of sagittal synostosis by strip craniectomy. From his procedure, multiple techniques have been developed and endorsed for this condition, ranging from simple suturectomies to extensive calvarial vault remodeling. In addition, even today, endoscopically aided strip craniectomy is performed as a surgical treatment of craniosynostosis. This article describes the life and works of the surgeon who revolutionized the management of craniosynostosis.

Craniosynostosis surgery: the legacy of Paul Tessier.

Paul Louis Tessier is recognized as the father of craniofacial surgery. While his story and pivotal contributions to the development of the multidisciplinary practice of craniofacial surgery are much highlighted in plastic surgery literature, they are seldom directly discussed in the context of neurosurgeons. His life and legacy to craniosynostosis and neurosurgery are explored in the present paper.

Craniovertebral junction malformation in Northeastern Brazil: the myth of the Dutch colonization.

The high prevalence of craniovertebral junction malformation in Northeastern Brazil is historically associated with brachycephalic biotype (flat head), also common in this region. It has been postulated that this trait was introduced to this region by the Dutch during the colonial period in Brazil's history. Based on the confrontation of this paradigm against some historical facts, the authors concluded that the brachycephalic phenotype was inherited from prehistoric ancestors (Amerindians) who were already living in this region when white European men arrived.

Hereditary premature closure of a coronal suture in the Abraham Lincoln family.

The most easily recognized facial features of unilateral premature closure of a coronal suture in the skull are an upward arching of the superior orbital rim and a smaller face on the involved side. Photographs indicate that at least 9 individuals over 5 generations of the Abraham Lincoln family showed this anomaly.

Craniovertebral junction malformation in Northeastern Brazil: the myth of the Dutch colonization / Malformação da junção craniovertebral no Nordeste do Brasil: o mito da colonização Holandesa

The high prevalence of craniovertebral junction malformation in Northeastern Brazil is historically associated with brachycephalic biotype (flat head), also common in this region. It has been postulated that this trait was introduced to this region by the Dutch during the colonial period in Brazil's history. Based on the confrontation of this paradigm against some historical facts, the authors concluded that the brachycephalic phenotype was inherited from prehistoric ancestors (Amerindians) who were already living in this region when white European men arrived.

A alta prevalência de malformação da junção craniovertebral no Nordeste do Brasil é historicamente associada ao biótipo braquicefálico (cabeça chata), também comum nessa região. Postula-se que essa característica tenha sido introduzida na região pelos holandeses durante o período colonial da história do Brasil. Com base na confrontação desse paradigma com alguns fatos históricos, os autores concluem que o fenótipo braquicefálico foi herdado de ancestrais pré-históricos (ameríndios) que já habitavam a região no momento da chegada do homem branco europeu.

Kleeblattschädel skull: a review of its history, diagnosis, associations, and treatment.

INTRODUCTION: Kleeblattschädel (cloverleaf) skull is a very uncommon form of pansynostosis. Some cases are associated with syndromes, but often, this skull deformity is seen in isolation. To date, a comprehensive review of this topic is not available in the medical literature. CONCLUSIONS: Herein, we review the history, associations, diagnosis, treatment, and complications of Kleeblattschädel skull.

Metopic synostosis.

Premature closure of the metopic suture results in a growth restriction of the frontal bones, which leads to a skull malformation known as trigonocephaly. Over the course of recent decades, its incidence has been rising, currently making it the second most common type of craniosynostosis. Treatment consists of a cranioplasty, usually preformed before the age of 1 year. Metopic synostosis is linked with an increased level of neurodevelopmental delays. Theories on the etiology of these delays range from a reduced volume of the anterior cranial fossa to intrinsic malformations of the brain. This paper aims to provide an overview of this entity by giving an update on the epidemiology, etiology, evolution of treatment, follow-up, and neurodevelopment of metopic synostosis.

Operative treatment for microcephaly secondary to craniosynostosis at the turn of the twentieth century.

INTRODUCTION: Microcephaly has been described throughout history, and physicians in the nineteenth and early twentieth centuries struggled to identify the etiology of this condition in order to better treat it. In 1908, Cushing wrote in Surgery of the Head, in Keen's Surgery Its Principles and Practice, that the use of craniotomies for the treatment of microcephaly was a futile practice, with limited post-operative improvement that did not justify the operative risks. METHODS: Following IRB approval, and through the courtesy of the Alan Mason Chesney Archives, the surgical files of the Johns Hopkins Hospital, from 1896 to 1912, were reviewed. A single case of operative treatment of microcephaly, performed 3 years after Cushing's published opinion on the procedure, was discovered and is described here. RESULTS: In 1911, a 3-year-old girl from Florida presented with complaints of an "inability to walk" and "backward development." The diagnosis of microcephaly, possibly secondary to craniosynostosis, was made. Cushing operated upon her twice, performing bilateral decompressive craniotomies in a two-stage operation, without excision of the synostosis. Post-operatively, he documented improvement in the child's condition and a resolution of some presenting symptoms. CONCLUSIONS: Although Cushing published his disapproval of the use of craniotomies in the treatment of microcephaly in 1908, a review of his early surgical files demonstrates that this opinion was based on cases published in the literature, rather than his own operative experience. In 1911, he performed bilateral craniotomies in a 3-year-old patient with microcephaly and documented post-operative improvement in the patient's general condition.

The evolution of surgical management for craniosynostosis.

Craniosynostosis, the premature closure of cranial sutures, has been known to exist for centuries, but modern surgical management has only emerged and evolved over the past 100 years. The success of surgery for this condition has been based on the recognition of scientific principles that dictate brain and cranial growth in early infancy and childhood. The evolution of strip craniectomies and suturectomies to extensive calvarial remodeling and endoscopic suturectomies has been driven by a growing understanding of how a prematurely fused cranial suture can affect the growth and shape of the entire skull. In this review, the authors discuss the early descriptions of craniosynostosis, describe the scientific principles upon which surgical intervention was based, and briefly summarize the eras of surgical management and their evolution to present day.

Harvey Cushing's experience with cranial deformity.

Surgery for cranial deformity was associated with significant surgical morbidity during the early part of the 20th century. For this reason, Harvey Cushing was initially not in favor of surgical treatment of craniosynostosis. Later in his career, Cushing began to operate on these children, although it never became a major focus of his practice. Several examples of his patients with cranial deformity are presented, and his limited role in the development of this field is discussed.

History of the Kleeblattschädel deformity: origin of concepts and evolution of management in the past 50 years.

The history and evolution of surgical strategies for the treatment of Kleeblattschädel deformity are not well described in the medical literature. Kleeblattschädel anomaly is one of the most formidable of the craniosynostoses, requiring a multidisciplinary team for surgical treatment. The initial descriptions of this cloverleaf deformity and the evolution of surgical treatment are detailed in the present report. Two illustrative cases of Kleeblattschädel deformity, syndromic and nonsyndromic craniosynostoses treated by the senior authors, are also described along with insights into operative strategies.

Unilateral coronal craniosynostosis in Abraham Lincoln and his family.

Premature closure of one coronal skull suture produces a characteristic arching or relative elevation of the superior orbital rim on the involved side. This sign is associated with facial asymmetry, and both signs are usually the most conspicuous features in patients with mild unilateral coronal craniosynostosis. Photographs suggest that at least 9 individuals over 5 generations of the Abraham Lincoln family had premature closure of 1 coronal suture. In 8 males, there was involvement of the left side; in 1 female, there was involvement of the right side.