Scanning and three-dimensional-printing using computed tomography of the "Golden Boy" mummy.

Ancient Egyptian mummies represent an opportunity to learn more about the health, beliefs, and skills of humans in antiquity. A fully wrapped mummy, from a Late Ptolemaic cemetery (c.332-30 BC) in Edfu, Egypt, has been stored, unexamined, at the Cairo Egyptian Museum since 1916. We hypothesized that scanning and 3D-printing the mummy using Computed Tomography (CT) could help in documenting and promoting its public display. CT enabled non-invasive digital unwrapping and revealed a well-preserved mummy. Biological sex could be determined from the presence of male genitalia; epiphyseal fusion and tooth eruption indicated an approximate age at death of 14-15 years. The deceased had healthy teeth and bones without evidence of poor nutrition or disease. CT detected a high-quality mummification process that included brain removal through an iatrogenic defect of the cribriform plate and viscera removal via a left lower-abdominal incision. The heart remained in the chest as a spiritual symbol. Resin was poured into the emptied cranial and torso cavities, and linen packs were placed inside the torso. The Mummy's external ornamentation includes a gilded head mask, a pectoral cartonnage, and a pair of sandals. CT identified 49 amulets inside the mummy and between the wrappings, arranged in three columns. The amulets have 21 different shapes, including Udjat, scarabs, Ajet, Djed-pillar, Tyt, Placenta, Double-Plume, and Right-angle. CT densities indicated that 30 (61%) amulets were metal (likely gold), and the other amulets were made of faience, stones, or fired clay. The embalmers placed amulets to protect and provide vitality for the body for the afterlife. A gold tongue amulet was placed inside the mouth to ensure the deceased could speak in the afterlife. A Two-finger amulet was placed beside the penis to protect the embalming incision. 3D-printing enabled the tactile and visual study of a heart scarab found inside the thoracic cavity. Findings from this study suggest that ancient Egyptians valued their children and provided them with ritual treatment. State-of-the-art techniques such as CT and 3D printing provided valuable insights and supported the museum display of the mummy, nicknamed "The Golden Boy."

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Introduction: Pathogenic variants in the PIEZO family member 2 (PIEZO2) gene are known to cause Gordon syndrome (GS), Marden-Walker syndrome (MWS), and distal arthrogryposis type 5 (DA5). Out of these, MWS has a recognizable phenotype that can be discerned easily, but the distinction between GS and DA5 is less evident. Few children with pathogenic PIEZO2 variants have been reported to show posterior fossa anomalies. Methods and Results: By candidate gene targeting guided by proper clinical evaluation and neuroimaging findings, a patient with classic MWS harboring a de novo novel variant (c.8237G>A, p.W2746*) in the C-terminal region of PIEZO2 was identified. In addition, another girl with the typical clinical features of GS is also described carrying the most prevalent reported variant (c.8057G>A, p.R2686H) in PIEZO2. The brain MRI of the 2 patients showed Dandy-Walker malformation (DWM). Diffusion tensor imaging visualized anteroposterior and downward aligned thin middle cerebellar peduncle. The association of DWM with arthrogryposis in the presence of PIEZO2 variants remains quite interesting and provides more evidence that PIEZO2 plays a role in the development of hindbrain although the underlying mechanism remains unclear. Moreover, the 2 girls had distinct foot patterning in the form of shortening of the first and fifth toes. Conclusion: Phenotype analysis and a comprehensive review of the literature strongly support the previously published data and corroborate the evidence that heterozygous PIEZO2-related disorders represent a continuum with overlapping phenotypic features.

Computed Tomography Study of the Mummy of King Seqenenre Taa II: New Insights Into His Violent Death.

Seqenenre-Taa-II, The Brave, (c.1558-1553 BC) ruled Southern Egypt during the occupation of Egypt by the Hyksos. The mummy was physically examined and X-rayed in the 1960s, which showed severe head wounds that have prompted various theories about the circumstances of his death. We postulated that Computed Tomography (CT) study of Seqenenre-Taa-II's mummy would give insights into the circumstances of his death. We examined Seqenenre's mummy using CT and compared the findings with the archaeological literature as well as with five Asian weapons found in Tell-el-Dabaa. CT findings indicate that Seqenenre died in his forties. The mummies deformed hands suggest that the King was likely imprisoned with his hands tied. CT images provided detailed analysis of Seqenenre's previously reported injuries to the forehead, right supra-orbital, nose-right orbit, left chick, and skull base. This study revealed additional craniofacial fractures in the right lateral side of the skull that had been concealed by the embalmers beneath layers of material. Analysis of the morphology of the injuries enabled a better understanding of the mechanism of trauma, possible number of the attackers, and their relative position to the King. The size and shape of the fractures correlated well with the studied Hyksos weapons. The lethal attack was aimed at the King's face, likely in an attempt to disgrace him. Mummification of Seqenenre's body was limited to evisceration without brain removal. The desiccated brain is shifted to the left side of the skull. This may indicate that the King's dead body stayed on its left side for some time-long enough for decomposition start before the mummification began. This suggests that the King likely died at a location distant from the funeral place, possibly on a battlefield. The embalmers attempted to conceal the King's injuries; the methods used suggest that the mummification took place in a royal mummification workshop rather than in a poorly equipped location. CT findings of Seqenenre's mummy helped us to better understand the circumstances of his violent death. His death motivated his successors to continue the fight to unify Egypt and start The New Kingdom.

Digital Unwrapping of the Mummy of King Amenhotep I (1525-1504 BC) Using CT.

The mummy of King Amenhotep I (18th Dynasty c.1525-1504 BC) was reburied by the 21st Dynasty priests at Deir el-Bahari Royal Cache. In 1881 the mummy was found fully wrapped and was one of few royal mummies that have not been unwrapped in modern times. We hypothesized that non-invasive digital unwrapping using CT would provide insights on the physical appearance, health, cause of death, and mummification style of the mummy of King Amenhotep I. We examined the mummy with CT and generated two- and three-dimensional images for the head mask, bandages, and the virtually unwrapped mummy. CT enabled the visualization of the face of Amenhotep I who died around the age of 35 years. The teeth had minimal attrition. There was no CT evidence of pathological changes or cause of death. The body has been eviscerated via a vertical left flank incision. The heart is seen in the left hemithorax with an overlying amulet. The brain has not been removed. The mummy has 30 amulets/jewelry pieces including a beaded metallic (likely gold) girdle. The mummy suffered from multiple postmortem injuries likely inflicted by tomb robbers that have been likely treated by 21st Dynasty embalmers. These included fixing the detached head and neck to the body with a resin-treated linen band; covering a defect in the anterior abdominal wall with a band and placing two amulets beneath; placement of the detached left upper limb beside the body and wrapping it to the body. The transversely oriented right forearm is individually wrapped, likely representing the original 18th Dynasty mummification and considered the first known New Kingdom mummy with crossed arms at the chest. The head mask is made of cartonnage and has inlaid stone eyes. The digital unwrapping of the mummy of Amenhotep I using CT sets a unique opportunity to reveal the physical features of the King non-invasively, understand the mummification style early in the 18th Dynasty, and the reburial intervention style by 21st Dynasty embalmers. This study may make us gain confidence in the goodwill of the reburial project of the Royal mummies by the 21st dynasty priests.

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.

Patients lacking PYCR2, a mitochondrial enzyme that synthesizes proline, display postnatal degenerative microcephaly with hypomyelination. Here we report the crystal structure of the PYCR2 apo-enzyme and show that a novel germline p.Gly249Val mutation lies at the dimer interface and lowers its enzymatic activity. We find that knocking out Pycr2 in mice phenocopies the human disorder and depletes PYCR1 levels in neural lineages. In situ quantification of neurotransmitters in the brains of PYCR2 mutant mice and patients revealed a signature of encephalopathy driven by excessive cerebral glycine. Mechanistically, we demonstrate that loss of PYCR2 upregulates SHMT2, which is responsible for glycine synthesis. This hyperglycemia could be partially reversed by SHMT2 knockdown, which rescued the axonal beading and neurite lengths of cultured Pycr2 knockout neurons. Our findings identify the glycine metabolic pathway as a possible intervention point to alleviate the neurological symptoms of PYCR2-mutant patients.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

OBJECTIVE: To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. METHODS: Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression. RESULTS: All patients showed biallelic mutations in the nonclustered protocadherin-12 (PCDH12) gene. The characteristic clinical presentation included progressive microcephaly, craniofacial dysmorphism, psychomotor disability, epilepsy, and axial hypotonia with variable appendicular spasticity. Brain imaging showed brainstem malformations and with frequent thinned corpus callosum with punctate brain calcifications, reflecting expression of PCDH12 in neural and endothelial cells. These cells showed lack of PCDH12 expression and impaired neurite outgrowth. INTERPRETATION: DMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.

Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes. We report on a consanguineous family with four consecutive siblings affected by this condition with lethal outcome in three (still birth), and termination of the fourth pregnancy based on antenatal MRI identification of brain and kidney anomalies that heralded proper and deep clinical phenotyping. The diagnosis of WWS was suggested based on the unique collective phenotype comprising brain anomalies in the form of lissencephaly, subcortical/subependymal heterotopia, and cerebellar hypoplasia shared by all four siblings; microphthalmia in one sibling; and large cystic kidneys in the fetus and another sibling. Other unshared neurological abnormalities included hydrocephalus and Dandy-Walker malformation. Whole exome sequencing of the fetus revealed a highly conserved missense mutation in POMT2 that is known to cause WWS with brain and eye anomalies.In conclusion, the heterogeneous clinical presentation in the four affected conceptions with POMT2 mutation expands the current clinical spectrum of POMT2-associated WWS to include large cystic kidneys; and confirms intra-familial variability in terms of brain, kidney, and eye anomalies.

Computed Tomography Study of the Feet of Mummy of Ramesses III: New Insights on the Harem Conspiracy.

OBJECTIVE: A previous study of the computed tomography (CT) of the neck of mummified Ramesses III (1190-1070 BC) suggested that an assailant slit the Pharaoh's throat with a knife in the plot known as Harem conspiracy. We hypothesized the presence of other injuries in the Pharaoh's body as a result of this fatal attack. METHODS: We analyzed CT images of mummified Ramesses III and reported any finding suggestive of trauma in correlation with archeologic literature. RESULTS: Computed tomographic images show partially amputated left big toe. The bony edges are sharp without signs of attempted healing. The ancient embalmers replaced the missing toe with a linen-made prosthesis and placed 6 metallic amulets (eye of Horus) at the feet region. CONCLUSIONS: The Pharaoh's left big toe was likely chopped perimortem by an assailant using a heavy sharp instrument as an ax. This additional injury supports the plot and gives more information about the death scene.

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic conditions caused by numerous external disruptive events presenting with variable imaging findings. However, rare familial occurrences have been reported. We describe five patients (two sib pairs and one sporadic) with congenital severe microcephaly, seizures, and profound intellectual disability. Brain magnetic resonance imaging (MRI) revealed unique and uniform picture of underdeveloped cerebral hemispheres with increased extraxial CSF, abnormal gyral pattern (polymicrogyria-like lesions in two sibs and lissencephaly in the others), loss of white matter, dysplastic ventricles, hypogenesis of corpus callosum, and hypoplasia of the brainstem, but hypoplastic cerebellum in one. Fetal magnetic resonance imaging (FMRI) of two patients showed the same developmental brain malformations in utero. These imaging findings are in accordance with arrested brain development rather than disruption. Molecular analysis excluded mutations in potentially related genes such as NDE1, MKL2, OCLN, and JAM3. These unique clinical and imaging findings were described before among familial reports with FBDS. However, our patients represent a recognizable phenotype of developmental brain malformations, that is, apparently distinguishable from either familial microhydranencephaly or microlissencephaly that were collectively termed FBDS. Thus, the use of the umbrella term FBDS is no longer helpful. Accordingly, we propose the term fetal brain arrest to distinguish them from other familial patients diagnosed as FBDS. The presence of five affected patients from three unrelated consanguineous families suggests an autosomal-recessive mode of inheritance. The spectrum of fetal brain disruption sequence is reviewed.

Subcutaneous packing in royal Egyptian mummies dated from 18th to 20th dynasties.

OBJECTIVE: It has been widely disseminated in the literature that subcutaneous packing, as part of mummification, was not usually done until the 21st dynasty. We aimed to study by computed tomography (CT) if subcutaneous packing was part of mummification of royal Egyptians dated to 18th to 20th dynasties. MATERIALS AND METHODS: We analyzed the 2- and 3-dimensional CT images of 13 royal mummies dated to circa 1550 to 1153 BC for presence of subcutaneous embalming materials. Among the studied mummies were Amenhotep III, Tutankhamun, Seti I, and Ramesses II. We reported the CT characters of any detected subcutaneous embalming materials and noted their impact on the morphology of the involved body part. We correlated the CT findings with the archeological literature. RESULTS: Computed tomographic images showed subcutaneous packing in 12 (92.3%) mummies; whereas the mummy that was previously known as "Thutmose I" showed no such evidence. Subcutaneous packing involved the faces (n = 11), necks (n = 4), torsos (n = 5), and/or extremities (n = 4) of the mummies. Subcutaneous filling materials showed variation in homogeneity and CT densities and they were likely composed of resin, bits of linen with resin, or other substances. Subcutaneous packing procedure succeeded in providing uniform full contour of the involved body regions without causing significant tissue damages. CONCLUSIONS: Subcutaneous packing procedure was used as part of mummification of royal Ancient Egyptians dated to 18th to 20th dynasties earlier than what was believed in archaeology. The Ancient Egyptian embalmers must have been skilled in dissection and possessed surgical tools that enabled them to perform this fine procedure.

Ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis in royal Egyptian mummies of 18th -20th Dynasties? CT and archaeology studies.

Objective. To study the computed tomography(CT) images of royal Ancient Egyptian mummies dated to the 18th to early 20th Dynasties for the claimed diagnoses of ankylosing spondylitis (AS) and diffuse idiopathic skeletal hyperostosis (DISH) and to correlate the findings with the archaeology literature.Methods. We studied the CT images of 13 royal Ancient Egyptian mummies (1492­1153 BC) for evidence of AS and DISH and correlated our findings with the archaeology literature.Results. The findings of the CT scans excluded the diagnosis of AS, based on the absence of sacroiliac joint erosions or fusion of the facet joints. Four mummies fulfilled the diagnostic criteria for DISH:Amenhotep III (18th Dynasty), Ramesses II, his son Merenptah, and Ramesses III (19th to early 20th Dynasties).The diagnosis of DISH, a commonly a symptomatic disease of old age, in the 4 pharaohs is in concordance with their longevity and active lifestyles.Conclusion. CT findings excluded the diagnosis of AS in the studied royal Ancient Egyptian mummies and brought into question the antiquity of the disease. The CT features of DISH during this ancient period were similar to those commonly seen in modern populations,and it is likely that they will also be similar in the future.The affection of Ramesses II and his son Merenptah supports familial clustering of DISH. The process of mummification may induce changes in the spine that should be considered during investigations of disease in ancient mummies.

Multidetector computed tomographic study of amulets, jewelry, and other foreign objects in royal Egyptian mummies dated from the 18th to 20th dynasties.

OBJECTIVE: The objective of this study was to study the role of multidetector computed tomography (MDCT) in the analysis of foreign objects found within or on the royal Egyptian mummies. METHODS: We studied MDCT images of 15 royal Egyptian mummies (1493-1156 BC) for the presence of foreign objects. We studied each found object for its location, morphology, dimensions, and density in correlation with the archeologic literature. RESULTS: We detected 14 objects in 6 mummies: a heart amulet, 3 Eye of Horus, 4 Sons of Horus, a crowned-Osiris amulet, 2 bracelets, 2 sets of beads/stones, and an arrowhead that may be linked to injury. The MDCT images suggested the material of the objects to be metal (n = 6), semiprecious stone (n = 1), quartzlike (faience) (n = 2), and fired clay (n = 5). Placement of an amulet within the heart supports our knowledge that its funeral purpose was meant for the purpose of protection. CONCLUSIONS: Multidetector computed tomography offers a detailed noninvasive analysis of objects on/in mummies and differentiates funerary objects from those that may be related to cause of death.

Fetal MRI: An approach to practice: A review.

MRI has been increasingly used for detailed visualization of the fetus in utero as well as pregnancy structures. Yet, the familiarity of radiologists and clinicians with fetal MRI is still limited. This article provides a practical approach to fetal MR imaging. Fetal MRI is an interactive scanning of the moving fetus owed to the use of fast sequences. Single-shot fast spin-echo (SSFSE) T2-weighted imaging is a standard sequence. T1-weighted sequences are primarily used to demonstrate fat, calcification and hemorrhage. Balanced steady-state free-precession (SSFP), are beneficial in demonstrating fetal structures as the heart and vessels. Diffusion weighted imaging (DWI), MR spectroscopy (MRS), and diffusion tensor imaging (DTI) have potential applications in fetal imaging. Knowing the developing fetal MR anatomy is essential to detect abnormalities. MR evaluation of the developing fetal brain should include recognition of the multilayered-appearance of the cerebral parenchyma, knowledge of the timing of sulci appearance, myelination and changes in ventricular size. With advanced gestation, fetal organs as lungs and kidneys show significant changes in volume and T2-signal. Through a systematic approach, the normal anatomy of the developing fetus is shown to contrast with a wide spectrum of fetal disorders. The abnormalities displayed are graded in severity from simple common lesions to more complex rare cases. Complete fetal MRI is fulfilled by careful evaluation of the placenta, umbilical cord and amniotic cavity. Accurate interpretation of fetal MRI can provide valuable information that helps prenatal counseling, facilitate management decisions, guide therapy, and support research studies.

Fetal magnetic resonance imaging (MRI): a tool for a better understanding of normal and abnormal brain development.

Knowledge of the anatomy of the developing fetal brain is essential to detect abnormalities and understand their pathogenesis. Capability of magnetic resonance imaging (MRI) to visualize the brain in utero and to differentiate between its various tissues makes fetal MRI a potential diagnostic and research tool for the developing brain. This article provides an approach to understand the normal and abnormal brain development through schematic interpretation of fetal brain MR images. MRI is a potential screening tool in the second trimester of pregnancies in fetuses at risk for brain anomalies and helps in describing new brain syndromes with in utero presentation. Accurate interpretation of fetal MRI can provide valuable information that helps genetic counseling, facilitates management decisions, and guides therapy. Fetal MRI can help in better understanding the pathogenesis of fetal brain malformations and can support research that could lead to disease-specific interventions.

Variability in brain treatment during mummification of royal Egyptians dated to the 18th-20th dynasties: MDCT findings correlated with the archaeologic literature.

OBJECTIVE: The objective of our study was to use MDCT to study brain treatment and removal (excerebration) as part of mummification of royal Egyptian mummies dated to the 18th to early 20th Dynasties and to correlate the imaging findings with the archaeologic literature. MATERIALS AND METHODS: As part of an MDCT study of the Royal Ancient Egyptian Mummies Project, we analyzed CT images of the heads of 12 mummies dated to circa 1493-1156 BC (18th to early 20th Dynasties). We reconstructed and analyzed CT images for the presence of cranial defects, brain remnants, intracranial embalming materials, and nasal packs. We compared the CT findings of mummies dated to the 18th Dynasty with those dated to the 19th to early 20th Dynasties. RESULTS: The Akhenaten mummy was excluded because of extensive postmortem skull fractures. CT showed that no brain treatment was offered to three mummies (Thutmose I, II, and III) who dated to the early 18th Dynasty and was offered to the eight mummies who dated later. The route of excerebration was transnasal in eight mummies; an additional suspected route was via a parietal defect. CT showed variable appearances of the intracranial contents. There were larger volumes of cranial packs and more variability in the appearances of the cranial packs in the royal mummies dated to the 19th to 20th Dynasties than in those dated to the 18th Dynasty. CONCLUSION: MDCT shows variations in brain treatment during mummification of royal Egyptian mummies (18th-20th Dynasties). This study sets a template for future CT studies of the heads of ancient Egyptian mummies and focuses on the key elements of cranial mummification in this ancient era.

Revisiting the harem conspiracy and death of Ramesses III: anthropological, forensic, radiological, and genetic study.

OBJECTIVE: To investigate the true character of the harem conspiracy described in the Judicial Papyrus of Turin and determine whether Ramesses III was indeed killed. DESIGN: Anthropological, forensic, radiological, and genetic study of the mummies of Ramesses III and unknown man E, found together and taken from the 20th dynasty of ancient Egypt (circa 1190-1070 BC). RESULTS: Computed tomography scans revealed a deep cut in Ramesses III's throat, probably made by a sharp knife. During the mummification process, a Horus eye amulet was inserted in the wound for healing purposes, and the neck was covered by a collar of thick linen layers. Forensic examination of unknown man E showed compressed skin folds around his neck and a thoracic inflation. Unknown man E also had an unusual mummification procedure. According to genetic analyses, both mummies had identical haplotypes of the Y chromosome and a common male lineage. CONCLUSIONS: This study suggests that Ramesses III was murdered during the harem conspiracy by the cutting of his throat. Unknown man E is a possible candidate as Ramesses III's son Pentawere.

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation.

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular micro-retrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large interhemispheric cyst and agenesis of corpus callosum, abnormally shaped hippocampus, and proportionately affected cerebellum and brainstem. In addition, fundus examination showed foveal hypoplasia with optic nerve atrophy. No abnormalities of the internal organs were found. This profound form of microcephaly was identified at 17 weeks gestation by ultrasound and fetal brain MRI helped in characterizing the developmental brain malformations in the second sib. Molecular analysis excluded mutations in potentially related genes such as RNU4ATAC, SLC25A19, and ASPM. These clinical and imaging findings are unlike that of any recognized severe forms of microcephaly which is believed to be a new microcephalic primordial dwarfism (MPD) with developmental brain malformations with most probably autosomal recessive inheritance based on consanguinity and similarly affected male and female sibs.

Mummified daughters of King Tutankhamun: archeologic and CT studies.

OBJECTIVE: The purpose of this study was to use MDCT to examine two mummies found in the tomb of King Tutankhamun to estimate their gestational ages at mummification, to determine the mummification method, and to investigate the congenital deformities of one of the mummies that had been suspected at previous medical examinations. MATERIALS AND METHODS: MDCT was performed on the mummies of the daughters of King Tutankhamun (article numbers 317a and 317b), and the images were reconstructed and subjected to forensic imaging analysis. RESULTS: The gestational ages at mummification of mummies 317a and 317b were estimated to be approximately 24.7 and 36.78 weeks. The skeletal congenital anomalies of mummy 317b suggested at past radiographic analysis were ruled out. CONCLUSION: The results of this study may set a precedent for use of CT and forensic image analysis in the study of ancient mummified fetuses.

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance.