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Br J Radiol ; 95(1129): 20201241, 2022 Jan 01.
Article En | MEDLINE | ID: mdl-34609904

Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of Notch pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Rarer cerebral midline malformations and temporal bone anomalies have also been described.

Alagille Syndrome/diagnostic imaging , Brain/abnormalities , Cerebral Angiography , Cerebral Arteries/abnormalities , Cerebral Veins/abnormalities , Face/abnormalities , Humans , Magnetic Resonance Imaging , Neuroradiography , Skull/abnormalities , Spine/abnormalities
Arch Pediatr ; 28(7): 599-605, 2021 Oct.
Article En | MEDLINE | ID: mdl-34625380

X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity. Phosphate supplements and oral vitamin D analogs partially or, in some cases, fully restore the limb straightness. XLH patients may also be affected by premature, complete, or partial ossification of sutures between cranial bone, which could eventually result in cranial dysmorphia, decreased intracranial volume, and secondary abnormally high intracranial pressure with a cerebral compression. Our goal is to address the criteria and the management of the skeletal complications associated with XLH, mainly orthopedic and neurosurgical care, and reflect on decision-making and follow-up complexities.

Familial Hypophosphatemic Rickets/surgery , Neurosurgical Procedures/methods , Orthopedic Procedures/methods , Humans , Neurosurgical Procedures/trends , Orthopedic Procedures/trends , Skull/abnormalities , Skull/physiopathology , Skull/surgery
Sci Rep ; 11(1): 17970, 2021 09 09.
Article En | MEDLINE | ID: mdl-34504140

Craniofacial anomaly including deformational plagiocephaly as a result of deformities in head and facial bones evolution is a serious health problem in newbies. The impact of such condition on the affected infants is profound from both medical and social viewpoint. Indeed, timely diagnosing through different medical examinations like anthropometric measurements of the skull or even Computer Tomography (CT) image modality followed by a periodical screening and monitoring plays a vital role in treatment phase. In this paper, a classification model for detecting and monitoring deformational plagiocephaly in affected infants is presented. The presented model is based on a deep learning network architecture. The given model achieves high accuracy of 99.01% with other classification parameters. The input to the model are the images captured by commonly used smartphone cameras which waives the requirement to sophisticated medical imaging modalities. The method is deployed into a mobile application which enables the parents/caregivers and non-clinical experts to monitor and report the treatment progress at home.

Deep Learning , Mobile Applications , Monitoring, Ambulatory/methods , Plagiocephaly, Nonsynostotic/diagnostic imaging , Skull/abnormalities , Cephalometry/methods , Child , Child, Preschool , Data Accuracy , Head/abnormalities , Humans , Infant , Severity of Illness Index , Smartphone
Sci Rep ; 11(1): 17616, 2021 09 02.
Article En | MEDLINE | ID: mdl-34475458

Morphological changes in the child skull due to mechanical and metabolic stimulation and synostosis of the suture are well known. On the other hand, few studies have focused on clinical conditions relevant for adult skull deformity. We retrospectively reviewed computed tomography (CT) findings obtained from 365 cases that were treated for head injuries, moyamoya disease, cervical internal carotid artery stenosis, and mental diseases, and investigated the morphological changes in the skull associated with these diseases. The findings from head injuries were used not only for control subjects, but also for the analysis of generational changes in skull shape based on birth year. Head shape had a brachiocephalic tendency with occipital flattening in people born from the 1950s onwards. Cases of moyamoya disease, cervical internal carotid artery stenosis, and mental diseases showed significantly thicker frontal and occipital bone than those of control subjects. The skull thickening was especially noticeable in the frontal bone in moyamoya disease. Plagiocephaly was significantly frequent in moyamoya disease. These uncommon skull shapes are useful CT findings in screening subjects for early evidence of mental diseases and intracranial ischemic diseases with arterial stenosis.

Carotid Stenosis/pathology , Craniocerebral Trauma/pathology , Mental Disorders/pathology , Moyamoya Disease/pathology , Skull/abnormalities , Aged , Female , Frontal Bone/abnormalities , Frontal Bone/pathology , Humans , Male , Middle Aged , Occipital Bone/abnormalities , Occipital Bone/pathology , Retrospective Studies , Skull/pathology , Tomography, X-Ray Computed
PLoS One ; 16(7): e0254420, 2021.
Article En | MEDLINE | ID: mdl-34288937

For many years, there has been a trend to breed cats with an increasing degree of brachycephalic head features, which are known to have a severe impact on the animals' health and welfare. The direct relation between different grades of brachycephaly and their negative implications have not been researched in this species. The aim of this study was therefore to establish correlations between the different grades of brachycephaly and reduced upper respiratory airways, exophthalmos of the eye globes and malalignment of the teeth in Persian cats. Sixty-nine Persian cats of various skull dimensions and ten Domestic shorthair cats were recruited for the study. The cats' skulls were examined using three-dimensional reconstructions created from Computed Tomography datasets. Brachycephaly was graded using established craniometric measurements (facial index, cranial index, skull index, craniofacial angle). The flow area of the nasal passageways at different locations, the amount of the eye globe not supported by the bony orbit and the axial deviation of the teeth were quantified and evaluated for a correlation with the grade of brachycephaly. The results of this study clearly show that increased grades of brachycephaly in Persian cats resulted in larger extra-orbital parts of the ocular bulbs. The brachycephalic skull dimension also resulted in a lower height of the naso-osseal aperture, while other areas of the nasal airways were not correlated with the severity of brachycephaly. Persian cats showed a significantly increased occurrence of premolar tooth displacement in the upper jaw with increasing brachycephaly grades. It was interesting to note that the measured values had a broad range and values of some individual Persian cats showed an overlap with those of Domestic shorthair cats.

Craniosynostoses/diet therapy , Exophthalmos/diagnostic imaging , Nasal Cavity/diagnostic imaging , Skull , Tomography, X-Ray Computed , Tooth Abnormalities/diagnostic imaging , Animals , Cats , Skull/abnormalities , Skull/diagnostic imaging
Indian J Pathol Microbiol ; 64(2): 334-338, 2021.
Article En | MEDLINE | ID: mdl-33851629

Intraosseous hemangiomas are uncommon, constituting less than 1% of all osseous tumors. The most frequent sites are the calvaria and the vertebral column. The involvement of the facial bones is rare, and if occurs, it can involve maxilla, mandible, nasal bones and zygomatic bone. Zygomatic hemangioma is a benign, slow-growing tumor occurring mostly in adult women. The radiographic findings are diagnostic. Total excision of the tumor with the primary reconstruction of the defect is the preferred treatment modality. Here, we are reporting a case of a 37-year-old woman who presented with a painless hard swelling in the right zygomatic prominence, which was diagnosed as intraosseous hemangioma after the radiological examination because of its characteristic radiological picture. An Excisional biopsy also proved the swelling to be a cavernous hemangioma.

Hemangioma, Cavernous/pathology , Skull Neoplasms/pathology , Skull/abnormalities , Spine/abnormalities , Vascular Malformations/pathology , Zygoma/blood supply , Zygoma/pathology , Adult , Female , Hemangioma, Cavernous/surgery , Humans , Skull/pathology , Spine/pathology , Tomography, X-Ray Computed , Zygoma/surgery
Am J Med Genet A ; 185(6): 1903-1907, 2021 06.
Article En | MEDLINE | ID: mdl-33750016

Kenny-Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. Both conditions are characterized by gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. OCS and KCS2 are often referred to as FAM111A-related syndromes as a group; although OCS presents with a more severe, perinatal lethal phenotype. We report a novel FAM111A mutation in a fetus with poorly ossified skull, proportionate long extremities with thin diaphysis, and hypoplastic spleen consistent with FAM111A-related syndromes. Trio whole exome sequencing identified a p.Y562S de novo missense variant in the FAM111A gene. The variant shows significant similarity to other reported pathogenic mutations fitting proposed pathophysiologic mechanism which provide sufficient evidence for classification as likely pathogenic. Our report contributed a novel variant to the handful of OCS and KCS2 cases reported with pathogenic variants.

Abnormalities, Multiple/genetics , Bone Diseases, Developmental/genetics , Craniofacial Abnormalities/genetics , Dwarfism/genetics , Hyperostosis, Cortical, Congenital/genetics , Hypocalcemia/genetics , Receptors, Virus/genetics , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/pathology , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/diagnostic imaging , Bone Diseases, Developmental/pathology , Cardiovascular Abnormalities/diagnosis , Cardiovascular Abnormalities/genetics , Cardiovascular Abnormalities/pathology , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/diagnostic imaging , Craniofacial Abnormalities/pathology , Dwarfism/diagnosis , Dwarfism/diagnostic imaging , Dwarfism/pathology , Facial Bones/abnormalities , Facial Bones/pathology , Female , Fetus , Genetic Predisposition to Disease , Heterozygote , Humans , Hyperostosis, Cortical, Congenital/diagnosis , Hyperostosis, Cortical, Congenital/diagnostic imaging , Hyperostosis, Cortical, Congenital/pathology , Hypocalcemia/diagnosis , Hypocalcemia/diagnostic imaging , Hypocalcemia/pathology , Male , Mutation/genetics , Pregnancy , Skull/abnormalities , Skull/pathology , Spleen/abnormalities , Spleen/diagnostic imaging , Whole Exome Sequencing
Development ; 148(2)2021 01 25.
Article En | MEDLINE | ID: mdl-33462117

The regulated expansion of chondrocytes within growth plates and joints ensures proper skeletal development through adulthood. Mutations in the transcription factor NKX3.2 underlie spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD), which is characterized by skeletal defects including scoliosis, large epiphyses, wide growth plates and supernumerary distal limb joints. Whereas nkx3.2 knockdown zebrafish and mouse Nkx3.2 mutants display embryonic lethal jaw joint fusions and skeletal reductions, respectively, they lack the skeletal overgrowth seen in SMMD patients. Here, we report adult viable nkx3.2 mutant zebrafish displaying cartilage overgrowth in place of a missing jaw joint, as well as severe dysmorphologies of the facial skeleton, skullcap and spine. In contrast, cartilage overgrowth and scoliosis are absent in rare viable nkx3.2 knockdown animals that lack jaw joints, supporting post-embryonic roles for Nkx3.2. Single-cell RNA-sequencing and in vivo validation reveal increased proliferation and upregulation of stress-induced pathways, including prostaglandin synthases, in mutant chondrocytes. By generating a zebrafish model for the skeletal overgrowth defects of SMMD, we reveal post-embryonic roles for Nkx3.2 in dampening proliferation and buffering the stress response in joint-associated chondrocytes.

Bone and Bones/embryology , Bone and Bones/metabolism , Homeodomain Proteins/metabolism , Osteochondrodysplasias/embryology , Transcription Factors/metabolism , Zebrafish Proteins/metabolism , Zebrafish/embryology , Animals , Cartilage/embryology , Cartilage/pathology , Chondrocytes/metabolism , Disease Models, Animal , Embryo, Nonmammalian/abnormalities , Embryo, Nonmammalian/pathology , Gene Expression Regulation, Developmental , Jaw/embryology , Jaw/pathology , Joints/abnormalities , Joints/embryology , Joints/pathology , Mitosis/genetics , Morpholinos/pharmacology , Mutation/genetics , RNA-Seq , Single-Cell Analysis , Skull/abnormalities , Skull/embryology , Skull/pathology , Spine/abnormalities , Spine/embryology , Spine/pathology , Stress, Physiological/genetics , Up-Regulation/genetics , Zebrafish/genetics , Zebrafish Proteins/genetics
J Hum Genet ; 66(2): 171-179, 2021 Feb.
Article En | MEDLINE | ID: mdl-32778762

A null mutation in a patient can facilitate phenotype assignment and uncovers the function of that specific gene. We present five sibs of a consanguineous Pakistani family afflicted with a new syndrome with an unusual combination of skeletal anomalies including cranial asymmetry, fused sagittal sutures deviating from the medial axis, mandibular prognathia, maxillary hypoplasia, misaligned and crowded teeth, delayed bone age, multiple dislocations, hypoplastic and malpositioned patellae, humeral intracondylar fissures, scapular dyskinesis, long limbs, lumbar lordosis, protruding chest, prominent clavicles, short 5th digital rays, and ventral transverse digital creases plus features of cutis laxa. We mapped the disease gene locus to a 3.62-Mb region at 17q25.3 and identified a homozygous deletion of maximal 7.3 kb deduced to totally inactivate MYADML2 and downstream gene PYCR1, biallelic variants in which cause autosomal recessive cutis laxa (ARCL). All five affected sibs had the most common features of ARCL but not many of the less common ones. We attributed the anomalies not typical for ARCL to MYADML2 deficit, because no other genetic defect possibly a candidate to underlie the skeletal phenotype was found. MYADML2 is a gene of unknown function, has not been studied, and has not been associated with disease. Our findings present a possible phenotype for MYADML2 deficit that includes impaired bone patterning and maturation, definitely show that the gene is not essential for survival, and provide a start point for future studies on the function of MYADML2 protein. Detection of new patients is needed to confirm and delineate MYADML2-deficiency phenotype.

Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Homozygote , Mutation , Myelin and Lymphocyte-Associated Proteolipid Proteins/genetics , Sequence Deletion , Adolescent , Bone Development , Bone and Bones/metabolism , Bone and Bones/pathology , Child , Clavicle/metabolism , Clavicle/pathology , Craniosynostoses/genetics , Craniosynostoses/pathology , Cutis Laxa/genetics , Cutis Laxa/pathology , Female , Humans , Lordosis/genetics , Lordosis/pathology , Male , Pedigree , Phenotype , Skull/abnormalities
J Clin Ultrasound ; 49(3): 250-253, 2021 Mar.
Article En | MEDLINE | ID: mdl-32954549

Apert syndrome is characterized by craniosynostosis, mid-facial hypoplasia, and symmetric syndactyly. Prenatal diagnosis is challenging until the skull and facial anomalies become more pronounced during the third trimester. We present a case in which typical sonographic signs of Apert syndrome were observed after 23 weeks of gestation. Following termination of the pregnancy, both clinical features such as craniofacial abnormalities and syndactyly and cranial 3D-CT images showed high correlation with the previous sonographic findings. Furthermore, genetic analysis revealed a spontaneous mutation, c.755C≥G (p.S252W), in the FGFR2 gene, with this mutation implicated in the etiology of Apert syndrome.

Acrocephalosyndactylia/diagnostic imaging , Acrocephalosyndactylia/genetics , Tomography, X-Ray Computed , Ultrasonography, Prenatal , Autopsy , Female , Humans , Mutation , Pregnancy , Receptor, Fibroblast Growth Factor, Type 2/genetics , Skull/abnormalities
BJOG ; 128(2): 366-374, 2021 01.
Article En | MEDLINE | ID: mdl-32926566

BACKGROUND: Abnormal intracranial findings are often detected at mid-trimester ultrasound (US) in fetuses with myelomeningocele (MMC). It is unclear whether these findings constitute a spectrum of the disease or are an independent finding, which should contraindicate fetal surgery. OBJECTIVE: To ascertain the spectrum and frequency of US-detected cranial findings in fetuses with MMC. SEARCH STRATEGY: MEDLINE, Embase, Web of Science and CENTRAL were searched from January 2000 to June 2020. SELECTION CRITERIA: Study reporting incidence of cranial US findings in consecutive cases of second-trimester fetuses with MMC. DATA COLLECTION AND ANALYSIS: Publication quality was assessed by Newcastle-Ottawa Scale (NOS) and modified NOS. Meta-analysis could not be performed as a result of high clinical diversity and study heterogeneity. MAIN RESULTS: Fourteen cranial US findings were reported in 15 studies. Findings in classic Chiari II malformation (CIIM) spectrum included posterior fossa funnelling (96%), small transcerebellar diameter (82-96%), 'banana' sign (50-100%), beaked tectum (65%) and 'lemon' sign (53-100%). Additional cranial findings were small biparietal diameter (BPD) and head circumference (HC) (<5th centile; 53 and 71%, respectively), ventriculomegaly (45-89%), abnormal pointed shape of the occipital horn (77-78%), thinning of the posterior cerebrum, perinodular heterotopia (11%), abnormal gyration (3%), corpus callosum disorders (60%) and midline interhemispheric cyst (42%). CONCLUSIONS: We identified 14 cranial findings by second-trimester US in fetuses with MMC. The relatively high incidence of these findings and their unclear prognostic significance might not contraindicate fetal surgery in the case of normal fetal genetic testing. Some cranial findings may independently affect postnatal outcome, however. Long-term detailed follow-up is required to investigate this. TWEETABLE ABSTRACT: A high rate of cranial abnormalities found on second-trimester ultrasound in fetuses with myelomeningocele.

Fetal Diseases/diagnostic imaging , Meningomyelocele/diagnostic imaging , Skull/abnormalities , Skull/diagnostic imaging , Ultrasonography, Prenatal , Female , Humans , Meningomyelocele/embryology , Pregnancy , Pregnancy Trimester, Second , Skull/embryology
Radiology ; 298(1): 18-27, 2021 01.
Article En | MEDLINE | ID: mdl-33141005

Conjoined twins are rare and pose a challenge to radiologists and surgeons. Craniopagus twins, where conjunction involves the cranium, are especially rare. Even in large pediatric centers, radiologists are unlikely to encounter more than one such event in their medical careers. This rarity makes it daunting to select a CT and MRI protocol for these infants. Using the experience of two tertiary pediatric hospitals with six sets of craniopagus twins, this multidisciplinary and multimodal integrated imaging approach highlights the key questions that need addressing in the decision-making process for possible surgical intervention.

Clinical Decision-Making/methods , Magnetic Resonance Imaging/methods , Preoperative Care/methods , Skull/diagnostic imaging , Tomography, X-Ray Computed/methods , Twins, Conjoined/surgery , Hospitals, Pediatric , Humans , Skull/abnormalities , Skull/surgery , Tertiary Care Centers
Am J Med Genet A ; 185(3): 916-922, 2021 03.
Article En | MEDLINE | ID: mdl-33369125

ALX4 is a homeobox gene expressed in the mesenchyme of developing bone and is known to play an important role in the regulation of osteogenesis. Enlarged parietal foramina (EPF) is a phenotype of delayed intramembranous ossification of calvarial bones due to variants of ALX4. The contrasting phenotype of premature ossification of sutures is observed with heterozygous loss-of-function variants of TWIST1, which is an important regulator of osteoblast differentiation. Here, we describe an individual with a large cranium defect, with dominant transmission from the mother, both carrying disease causing heterozygous variants in ALX4 and TWIST1. The distinct phenotype of absent superior and posterior calvarium in the child and his mother was in sharp contrast to the other affected maternal relatives with a recognizable ALX4-related EPF phenotype. This report demonstrates comorbid disorders of Saethre-Chotzen syndrome and EPF in a mother and her child, resulting in severe skull defects reminiscent of calvarial abnormalities observed with bilallelic ALX4 variants. To our knowledge this is the first instance of ALX4 and TWIST1 variants acting synergistically to cause a unique phenotype influencing skull ossification.

Abnormalities, Multiple/genetics , Acrocephalosyndactylia/genetics , DNA-Binding Proteins/genetics , Frameshift Mutation , Loss of Function Mutation , Mutation, Missense , Nuclear Proteins/genetics , Osteogenesis/genetics , Skull/abnormalities , Transcription Factors/genetics , Twist-Related Protein 1/genetics , Adult , Cerebellar Vermis/abnormalities , DNA-Binding Proteins/deficiency , Female , Foot Deformities, Congenital/genetics , Genes, Dominant , Hand Deformities, Congenital/genetics , Heterozygote , Humans , Imaging, Three-Dimensional , Infant, Newborn , Male , Nuclear Proteins/deficiency , Pedigree , Pregnancy , Skull/diagnostic imaging , Skull/embryology , Syndactyly/genetics , Thumb/abnormalities , Tomography, X-Ray Computed , Transcription Factors/deficiency , Twist-Related Protein 1/deficiency , Ultrasonography, Prenatal , Whole Exome Sequencing
Vet Comp Orthop Traumatol ; 34(2): 124-129, 2021 Mar.
Article En | MEDLINE | ID: mdl-33242895

OBJECTIVE: The aim of this study was to determine the trochlear sulcus depth of three common brachycephalic breeds at risk of medial patellar luxation. STUDY DESIGN: Retrospective blinded clinical study using a previously validated ratio (T/P) of maximal trochlear sulcus depth (T) and maximal patellar craniocaudal thickness (P) measured on computed tomography, to assess trochlear sulcus depth in Pugs, French Bulldogs and English Bulldogs without clinical patellar luxation. The effect of breed on T/P was assessed using one-way linear regression models. RESULTS: The mean T/P was affected by breed (p < 0.001). There was significant difference between Pugs (0.45) and French Bulldogs (0.38) and between Pugs and English Bulldogs (0.4). There was no significant difference between Pugs and previously published data for non-brachycephalic and mixed breed dogs (0.46) (p = 0.39). Mean T/P was significantly reduced in the brachycephalic dog breeds combined compared with the previously published data (p < 0.001). CONCLUSION: The trochlear sulcus varies by breed and was more shallow in French and English Bulldogs than Pugs, hence a shallow sulcus may be a breed-driven characteristic. The three breeds assessed are at risk of patellar luxation but sulcus depth did not directly correlate with previously published risk factors-the contribution of sulcus depth to the aetiopathogenesis of patellar luxation remains unclear. Trochlear recession to achieve patellar coverage of 50% may be excessive considering maximal breed normal depth.

Dog Diseases/diagnostic imaging , Joint Dislocations/veterinary , Skull/anatomy & histology , Stifle/diagnostic imaging , Ulna/diagnostic imaging , Animals , Dog Diseases/etiology , Dogs/anatomy & histology , Female , Joint Dislocations/etiology , Joint Dislocations/pathology , Male , Retrospective Studies , Skull/abnormalities , Species Specificity , Stifle/pathology , Tomography, X-Ray Computed/veterinary , Ulna/pathology
Anat Sci Int ; 96(1): 42-54, 2021 Jan.
Article En | MEDLINE | ID: mdl-32591992

This study aimed to investigate the frequency of squamous suture (SqS) obliteration, to estimate the involvement of the major calvarial sutures and those surrounding the temporal squama, and to inspect the neuro- and basicranium for deformities. A series of 211 dry skulls of contemporary adult males were macroscopically observed. The skulls with closed SqS were scanned using an industrial µCT system. Digital morphometry of the skulls with obliterated SqS was performed by recording the 3D coordinates of anatomic landmarks and calculation of linear distances, angles and indices. Obliteration of SqS was observed in 3 (1.42%) skulls. One skull showed bilateral SqS obliteration. The other two cases were unilateral, one right-sided and one left-sided. SqS obliteration seems to be co-ordinated with the closure of the parietomastoid suture, partially related to the closure of the occipitomastoid, sphenoparietal and sphenofrontal sutures, and independent from the closure of the sphenosquamosal suture and the major calvarial sutures. No severe disproportions in the skull configuration were observed in the three investigated cases. The major differences in the complimentary hemicrania concern the parietal and occipital parts of the skull vault. Dorsum sellae erosion, an indicator for raised intracranial pressure, was observed in all three cases.

Cranial Sutures/anatomy & histology , Skull/abnormalities , Skull/anatomy & histology , Adult , Cranial Sutures/diagnostic imaging , Craniosynostoses , Humans , Intracranial Hypertension , Male , Middle Aged , Skull/diagnostic imaging , X-Ray Microtomography/methods , Young Adult
Neurosurg Rev ; 44(3): 1583-1589, 2021 Jun.
Article En | MEDLINE | ID: mdl-32648016

Combined scalp and skull deficiency due to malignant scalp tumors or sequelae of intracranial surgery present challenging entities for both neurosurgeons and reconstructive treatment. In complex cases, an interdisciplinary approach is needed between neurosurgeons and cranio-maxillofacial surgeons. We present a considerably large series for which we identify typical complications and pitfalls and provide evidence for the importance of an interdisciplinary algorithm for chronic wound healing complications and malignomas of the scalp and skull. We retrospectively reviewed all patients treated by the department of neurosurgery and cranio-maxillofacial surgery at our hospital for complex scalp deficiencies and malignant scalp tumors affecting the skull between 2006 and 2019, and extracted data on demographics, surgical technique, and perioperative complications. Thirty-seven patients were treated. Most cases were operated simultaneously (n: 32) and 6 cases in a staged procedure. Nineteen patients obtained a free flap for scalp reconstruction, 15 were treated with local axial flaps, and 3 patients underwent full thickness skin graft treatment. Complications occurred in 62% of cases, mostly related to cerebrospinal fluid (CSF) circulation disorders. New cerebrospinal fluid (CSF) disturbances occurred in 8 patients undergoing free flaps and shunt dysfunction occurred in 5 patients undergoing local axial flaps. Four patients died shortly after the surgical procedure (perioperative mortality 10.8%). Combined scalp and skull deficiency present a challenging task. An interdisciplinary treatment helps to prevent severe and specialty-specific complications, such as hydrocephalus. We therefore recommend a close neurological observation after reconstructive treatment with focus on symptoms of CSF disturbances.

Neurosurgical Procedures/adverse effects , Patient Care Team , Postoperative Cognitive Complications/etiology , Reconstructive Surgical Procedures/adverse effects , Scalp/surgery , Skull/surgery , Adult , Aged , Aged, 80 and over , Female , Humans , Length of Stay/trends , Male , Middle Aged , Neurosurgical Procedures/methods , Neurosurgical Procedures/trends , Patient Care Team/trends , Postoperative Cognitive Complications/therapy , Reconstructive Surgical Procedures/methods , Reconstructive Surgical Procedures/trends , Retrospective Studies , Scalp/abnormalities , Skin Transplantation/adverse effects , Skin Transplantation/methods , Skin Transplantation/trends , Skull/abnormalities , Surgical Flaps/adverse effects , Surgical Flaps/trends
Pediatr Radiol ; 50(12): 1658-1668, 2020 11.
Article En | MEDLINE | ID: mdl-33135136

Skeletal dysplasias are a large group of rare conditions with widely heterogeneous manifestations and a reputation for being diagnostically difficult. Involvement of the brain and craniovertebral junction are features familiar to the paediatric neuroradiologist. Involvement of the skull itself represents an area of overlap between the domains of the neuroradiologist and the skeletal dysplasia radiologist. In this pictorial essay, we review the principal skull manifestations of skeletal dysplasias as they present to the neuroradiologist.

Bone Diseases, Developmental/diagnostic imaging , Diagnostic Imaging/methods , Skull/abnormalities , Skull/diagnostic imaging , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male
Sci Rep ; 10(1): 17032, 2020 10 12.
Article En | MEDLINE | ID: mdl-33046754

Polledness in cattle is an autosomal dominant trait. Previous studies have revealed allelic heterogeneity at the polled locus and four different variants were identified, all in intergenic regions. In this study, we report a case of polled bull (FV-Polled1) born to horned parents, indicating a de novo origin of this polled condition. Using 50K genotyping and whole genome sequencing data, we identified on chromosome 2 an 11-bp deletion (AC_000159.1:g.52364063_52364073del; Del11) in the second exon of ZEB2 gene as the causal mutation for this de novo polled condition. We predicted that the deletion would shorten the protein product of ZEB2 by almost 91%. Moreover, we showed that all animals carrying Del11 mutation displayed symptoms similar to Mowat-Wilson syndrome (MWS) in humans, which is also associated with genetic variations in ZEB2. The symptoms in cattle include delayed maturity, small body stature and abnormal shape of skull. This is the first report of a de novo dominant mutation affecting only ZEB2 and associated with a genetic absence of horns. Therefore our results demonstrate undoubtedly that ZEB2 plays an important role in the process of horn ontogenesis as well as in the regulation of overall development and growth of animals.

Cattle Diseases/genetics , Dwarfism/veterinary , Frameshift Mutation , Horns , Infertility/veterinary , Skull/abnormalities , Zinc Finger E-box Binding Homeobox 2/genetics , Animals , Cattle , Dwarfism/genetics , Infertility/genetics , Phenotype