Orofacial characteristics in a child with Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome (HCS) also known as Cranio-skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro-osteolysis and generalized osteoporosis. The other distinctive features include a dysmorphic face, short stature, aplasia of facial sinuses, and persistent cranial sutures. Although the condition begins to manifest since birth, the characteristic features become more prominent with age. This syndrome is usually recognized by dentists due to these craniofacial abnormalities. This case report aims to highlight a case of 6-year-old girl HCS who presented with aberrant facial features, premature exfoliation of teeth, unusual mobility of teeth and atypical root resorption in primary dentition.

The Tomographic Study and the Phenotype of Wormian Bones.

BACKGROUND: We describe patients who were recognized via conventional radiographs of the skull as manifesting wormian bones. Wormian bones are not a specific diagnostic entity and can be seen in variable forms of syndromic disorders. MATERIALS AND METHODS: Seven children and three adults (of 10-28 years) were seen and diagnosed in our departments. The principal complaints for the pediatric and adult group were: ligamentous hyperlaxity, a history of delayed walking and occasional fractures, which later in life started to manifest a constellation of neurological symptoms such as nystagmus, persistent headache, and apnea. Conventional radiographs were the first traditional tools used to recognize wormian bones. We performed 3D reconstruction CT scans to further understand the precise etiology and the nature of these wormian bones and attempted to connect them with a broad spectrum of unpleasant clinical presentations. Our group of patients was consistent with the phenotypic and genotypic diagnoses of osteogenesis imperfecta type I and type IV as well as patients with multicentric carpotarsal osteolysis syndrome. RESULTS: Three-dimensional reconstruction CT scan of the skulls confirmed that these worm-like phenotypes are in fact stemmed from the progressive softening of the sutures. The overall phenotype of the melted sutures is akin to overly stretched pastry. The most concerning sutures in this pathological process are the lambdoid. The overstretching of the lambdoid sutures was responsible for the development of sub-clinical basilar impression/invagination. Patients with certain forms of skeletal dysplasia such as osteogenesis imperfecta type I and IV manifested the heterozygous mutation of COL1A1/COLA2, shown as typical overstretching of the sutures. Similarly, patients with multicentric carpotarsal osteolysis syndrome with a heterozygous missense mutation of MAFB also manifested the phenotype of overly stretched pastry along the skull sutures. CONCLUSION: What we encountered via 3D reconstruction CT scan in our group of patients was entirely different than the traditional description that can be found in all relevant literature of the last decades. The worm-like phenomenon is in fact a pathological sequel occurring as a result of a progressive softening of the sutures, which results in the overstretching of the lambdoid sutures, a pathological process roughly similar to an overly stretched soft pastry. This softening is totally connected to the weight of the cerebrum (the occipital lobe of the cerebrum). The lambdoid sutures represent the weight-bearing zone of the skull. When these joints are loose and soft, they adversely alter the anatomical structures of the skull and lead to a highly hazardous derangement of the craniocervical junction. The latter causes the pathological upward invasion of the dens into the brain stem, leading to the development of morbid/mortal basilar impression/invagination.

Anatomical characteristics and significance of the metopism and Wormian bones in dry adult-Chinese skulls.

BACKGROUND: This study aimed to investigate the incidence, topographical distribution, morphology, and interrelationship of the metopism and Wormian bones (WBs) in dry adult-Chinese skulls. MATERIALS AND METHODS: In this study, 285 dried adult-Chinese skull specimens from the Department of Anatomy at the Southern Medical University were examined. The incidence of different types of metopism and WBs were recorded. The length of the metopic suture was measured using a flexible ruler. Additionally, the lengths and widths of the WBs were measured using a vernier calliper. RESULTS: The incidence of metopism and WBs in Chinese adults were estimated at 10.18% (29/285) and 63.86% (182/285), respectively. The metopism always accompanied WBs (26/29, 89.66%), but the WBs did not necessarily accompany metopism (26/182, 14.29%). The locations of the WBs in the order of decreasing incidence were the lambdoid suture (78.57%, 143/182), pterion (34.62%, 63/182), asterion (12.09%, 22/182), lambda (8.24%, 15/182), sagittal suture (4.95%, 9/182), and Inca bone (3.85%, 7/182). These locations differed in topographical distribution and morphological patterns. CONCLUSIONS: Chinese adults differ in incidence of metopism and WBs from adults of other races, indicating racial differences. The characteristics of WBs vary depending on the cranial site of occurrence. The metopism always accompanies WBs, but the WBs do not necessarily accompany metopism.

Metopic skull with occipitalisation of the atlas.

In this study we report a combination of anatomic variations in the neurocranium of an adult male skull. The skull is scanned using an industrial µCT system Nikon XT H 225. The cranial vault shows a persistent metopic suture, a remnant from the mendosal suture and supernumerary bones. Cranial base inspection reveals atlas occipitalisation (AO), basilar kyphosis, unusually shaped dorsum sellae and bilateral interclinoid bridging. AO is extensive without signs of atlantooccipital articulation. The anterior and posterior arches of the atlas and the right transverse process are fussed to the occipital bone above. The complete fusion of the posterior arch causes a formation of bone canals for the vertebral arteries passage into the cranium. AO in this case is not related to a reduction of the foramen magnum dimensions and clivus length.

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

Abstract Cleidocranial dysplasia (CCD) is a skeletal disorder affecting cranial sutures, teeth, and clavicles, and is associated with the RUNX2 mutations. Although numerous patients have been described, a direct genotype-phenotype correlation for RUNX2 has been difficult to establish. Further cases must be studied to understand the clinical and genetic spectra of CCD. Objectives To characterize detailed phenotypes and identify variants causing CCD in five unrelated patients and their family members. Methodology Clinical and radiographic examinations were performed. Genetic variants were identified by exome and Sanger sequencing, data were analyzed by bioinformatics tools. Results Three cases were sporadic and two were familial. Exome sequencing successfully detected the heterozygous pathogenic RUNX2 variants in all affected individuals. Three were novel, comprising a frameshift c.739delA (p.(Ser247Valfs*)) in exon 6 (Patient-1), a nonsense c.901C>T (p.(Gln301*)) in exon 7 (Patient-2 and affected mother), and a nonsense c.1081C>T (p.(Gln361*)) in exon 8 (Patient-3). Two previously reported variants were missense: the c.673C>T (p.(Arg225Trp)) (Patient-4) and c.674G>A (p.(Arg225Gln)) (Patient-5) in exon 5 within the Runt homology domain. Patient-1, Patient-2, and Patient-4 with permanent dentition had thirty, nineteen, and twenty unerupted teeth, respectively; whereas Patient-3 and Patient-5, with deciduous dentition, had normally developed teeth. All patients exhibited typical CCD features, but the following uncommon/unreported phenotypes were observed: left fourth ray brachymetatarsia (Patient-1), normal clavicles (Patient-2 and affected mother), phalangeal malformations (Patient-3), and normal primary dentition (Patient-3, Patient-5). Conclusions The study shows that exome sequencing is effective to detect mutation across ethnics. The two p.Arg225 variants confirm that the Runt homology domain is vital for RUNX2 function. Here, we report a new CCD feature, unilateral brachymetatarsia, and three novel truncating variants, expanding the phenotypic and genotypic spectra of RUNX2 , as well as show that the CCD patients can have normal deciduous teeth, but must be monitored for permanent teeth anomalies.

Cleidocranial dysostosis: a case report with clinical illustration.

Cleidocranial Dysostosis or Dysplasia (CCD) is an infrequent clinical condition, with an autosomal dominant hereditary mode of inheritance. Triad lesions: multiple supernumerary teeth, partial or complete absence of the clavicles and open sagittal sutures and fontanelles. Nine-year-old female patient comes to our service for outpatient consultation with the main complaint of upper limbs mobility restriction with shoulders hypermotility. The chest X-ray showed partial absence of the clavicles and a cone-shaped thorax. The diagnosis of CCD was performed. Treatment of these patients requires a multidisciplinary approach which includes orthopaedic and dental corrections. The premature diagnosis allows a proper orientation for the treatment, offering a better life quality for the patient.

Síndrome de Saethre-Chotzen: a propósito de un caso / Saethre-Chotzen syndrome: a case report

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome.The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

[Saethre-Chotzen syndrome: a case report]. / Síndrome de Saethre-Chotzen: a propósito de un caso.

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence Síndrome de Saethre-Chotzen: a propósito de un caso Saethre-Chotzen syndrome: a case report of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

Incidence and Medicolegal Significance of Wormian Bones in Human Skulls in North India Region.

INTRODUCTION: Wormian bones (Wbs) are small bones located in or near the sutures of the skull which are irregular in size, shape, and number. The present study is to look into the morphological details of such supernumerary bones of skull with regards to their incidence, number, and topography in skulls from the Haryana region. MATERIALS AND METHODS: This observational study was carried out in the tertiary care hospital, in the region of Haryana and the total of 147 human skulls were examined during routine autopsy procedures with respect to sutures and topographic distribution of Wbs. The data were statistically analyzed. RESULTS: In the present study, the overall incidence of Wbs was seen in 52 skulls (35.3%) with males having 23.8% and females having 11.5%. CONCLUSION: The knowledge of incidence and distribution of Wbs in the skull could be useful to radiologists, causality medical officers, and autopsy surgeons in successfully differentiating a skull fracture from normal suture with Wbs or exit gunshot wound from fractured small Wb and thus ruling out the possibilities of presence or absence of fractures due to physical abuse, brittle bones, and exit gunshot wounds. It is also helpful to neurosurgeons in timely diagnosis and management of diseases or fractures in relation to the Wbs.

Rupture or traumatic dislocation of cranial suture on infants, involvement of the lambdoidal accessory bones (Wormian bones): case presentation and analysis.

BACKGROUND: Sutural or Wormian bones are accessory bones of genetic and hereditary relevance, considered as ethnic and anatomical variables. Recently, they have been related to a certain type of congenital alterations such as osteogenesis imperfecta; however, there is no description in the literature of their involvement in skull fractures in infants. CASE PRESENTATION: We present a case of a male patient aged 15 months who suffered a fall from the stairs of his home approximately 6 h before arrival in the emergency room. This fall of approximately 1 m in height and with an area of direct impact on the right occipito-parietal region with no apparent loss of consciousness. At admission, with a Glasgow of 14 for irritability with subgaleal hematoma and cranial endostosis on occipitoparietal region, no more neurological signs were present. A CT scan of the skull was performed showing an occipital-parietal discontinuity at the lambdoid suture, and the scan also showed that a displacement occurred below the thickness of the adjacent bone. In addition, radiographic evidence showed a high possibility of dural penetration and an area of adjacent hemorrhagic contusion. Due to these findings, a surgical approach was decided upon. The findings in the surgical procedure were a complete dislocation (rupture) of lambdoidal cranial suture on the occipital border of the accessory bone (Wormian bone) with dura mater tear on the rupture tracing. A craniotomy was performed with dural plasty without eventualities. Forty-eight hours after surgery, he was discharged home in a stable neurologic condition. CONCLUSIONS: The present report shows the implications of approaching this type of injury, which can be confused as a depressed skull fracture. There is no description in the literature of a sutural rupture associated with Wormian bones.

Prevalence of wormian bones in dried adult human skulls: an osteo-morphometric study in Nepal.

The purpose of this study was to determine the incidence of wormian bones (WBs) in different head shapes of Nepalese skulls along with their distribution at various sites. This study was conducted on 70 Nepalese skulls obtained from the Department of Anatomy, Nepal Medical College, and the Institute of Medicine from September 2017 to January 2018. The skulls were examined for the presence and topographic distribution of WBs. The occurrence of WBs at various sites was correlated among different head shapes. The incidence of skulls showing WBs was 88.57%. The WBs were observed at the lambdoid (61.43%), parietomastoid (41.43%), occipitomastoid (27.14%), pterion (25.71%), asterion (24.29%), lambda (11.43%), sagittal (7.14%) and coronal sutures (4.28%). The dominant head type was dolichocephalic (44.29%) and the least dominant was brachycephalic (10%). The maximum number of WBs was shown on brachycephalic (mean 8.86 ± 7.13) then hyperdolichocephalic (mean 8.33 ± 9.15), mesaticephalic (mean 5.10 ± 4.45) and dolichocephalic heads (mean 4.16 ± 5.30). Brachycephalic heads frequently exhibited WBs at the pterion (57.14%) and at different sutures: lambdoid (71.42%), parietomastoid (57.14%), sagittal (28.57%) and squamous (14.28%). Hyperdolichocephalic heads displayed more lambda (33.33%) and coronal (8.33%) WBs. Similarly, dolichocephalic and mesaticephalic heads showed WBs at the occipitomastoid (35.48%) and asterion (30%), respectively. Inca bones were only identified in three dolichocephalic skulls. Neurosurgeons, radiologists and orthopedists should be careful when doing clinical and surgical procedures on different head shapes of the Nepalese population.

Incidence, number and topography of Wormian bones in Greek adult dry skulls.

BACKGROUND: Wormian bones (WBs) are irregularly shaped bones formed from independent ossification centres found along cranial sutures and fontanelles. Their incidence varies among different populations and they constitute an anthropo- logical marker. Precise mechanism of formation is unknown and being under the control of genetic background and environmental factors. The aim of the current study is to investigate the incidence of WBs presence, number and topographical distribution according to gender and side in Greek adult dry skulls. MATERIALS AND METHODS: All sutures and fontanelles of 166 Greek adult dry skulls were examined for the presence, topography and number of WBs. One hundred and nineteen intact and 47 horizontally craniotomised skulls were examined for WBs presence on either side of the cranium, both exocranially and intracranially. RESULTS: One hundred and twenty-four (74.7%) skulls had WBs. No difference was detected between the incidence of WBs, gender and age. Sutures and fon- tanelles located in neurocranium showed a higher incidence of WBs, contrariwise to orbital sutures that indicated a low incidence. WBs most commonly located in the lambdoid suture (44.6%), followed in order of frequency by the coronal suture (39.8%), asterion (21% on the left and 15.3% on the right side) and parie- tomastoid suture (15.1% on the left and 13.9% on the right side). Other sutures with WBs were the occipitomastoid, sagittal, squamosal, zygomaticosphenoid, metopic, frontonasal and frontozygomatic. Regarding the skull fontanelles, WBs were found at pterion, posterior and anterior fontanelles. CONCLUSIONS: The current study highlights a high incidence of WBs in a Greek population, indicating racial variation. The in depth knowledge of exact location, frequency and number of WBs is essential for clinicians intervening in the skull area, anthropologists and forensic surgeons investigating child abuse cases.

Wormian Bone of the Orbit: A Case Report.

Wormian bones are formed due to abnormal ossification centers in various locations in the skull. Genetic and/or environmental factors have been proposed to explain their formation. These bones can be normal anatomical variants or associated with a number of pathological conditions. The literature reports the most common locations of these bones as the cranial sutures, and reports of the presence of these bones in the orbit are rare. Clinically, these bones in the orbit can simulate fractures on imaging or can dislodge during surgery causing injury to the surrounding structures. Herein, we report a case of wormian bones of the orbit and discuss other reports from the literature.

Morphology of cranial sutures and radiologic evaluation of the variations of intersutural bones.

BACKGROUND: As far as our literature searches showed us, morphological characteristics of cranium such as sutures, sutural bones and fontanelles had been examined in the skulls in the museums and dry specimens until now. As a modern method, three-dimensional virtual reconstruction of cranial bones by using multidetector computed tomography-computed tomography angiography (MDCT-CTA) can display in vivo morphological characteristics. In our study, we aimed to determine the presence and incidence of these morphological characteristics that can be clinically significant in our population, by using radiologic methods. MATERIALS AND METHODS: We examined head and neck regions of 185 patients via MDCT-CTA. We evaluated radiologically detectable variations of the metopic sutures, lambda, bregma, asterion and pterion, which can be very easily confused with fractures. Additionally, the differences between the genders and incidence of coexistence of these variations were evaluated. RESULTS: According to our study, the incidence of persistent metopic suture was 8.1% and the incidence of lambda variations was 5.9%. Variations were most commonly encountered on the left asterion, and least commonly on the bregma and left pterion. In the evaluation of the coexistence of the parameters and combinations, the Wormian bones located at the right and left asterions were detected. There were no statistically significant differences between genders. CONCLUSIONS: Variations of the sutures and sutural bones can be easily misdiagnosed with the fractures of related bony regions in unconscious patients with multiple traumas. During surgical interventions in these patients, surgeons must take this fact into consideration in order to make differential diagnosis of fractures and intersutural bone variations.

Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review.

PURPOSE: To describe the manifestations, surgical treatment, and potential complications of Hajdu-Cheney syndrome (HCS), and the management of these complications. METHODS: The clinical presentation, management and outcome of HCS with severe osteoporosis and open skull sutures is presented, together with a literature review. RESULTS: A 20-year-old female with HCS underwent posterior occipitocervical fusion for symptoms of progressive basilar invagination. Because of delayed lambdoid suture closure, the stiff fusion construct lead to increased suture distraction, most notably in the upright (suture-open) position, with relief in the supine (suture-closed) position. This was successfully remedied with extension of the fusion construct anteriorly over the skull vertex to the frontal bones. CONCLUSIONS: In patients with HCS and other conditions with delayed suture closure, the surgeon must be cognizant of the presence of mobility at the suture lines, and consider extending the fusion construct anteriorly over the skull vertex up to the frontal bones. Because of significant osteoporosis in these syndromes, multiple fixation points and augmentation with bone graft are important principles.

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.

Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis. We report the progression of clinical and radiographic findings in five patients with Hajdu-Cheney syndrome from two families. A custom capture array designed to capture exons and adjacent intron sequences of 230 selected genes were used for molecular analyses, and the pathogenic variants identified were confirmed by PCR and Sanger sequencing. In both families we observed age-dependent changes in the disease, with a progression of pain in older patients, a shortening of digits and nail beds on both the hands and feet, kyphoscoliosis and the persistence of Wormian bones in lambdoid sutures. Molecular analyses performed in two patients revealed that they are heterozygotes for a c.6255T>A (p.Cys2085*) variant in the NOTCH2 gene, resulting in a premature stop-codon. Bone mineral density (Z-score < -2) did not improved in a girl treated with calcium and vitamin D supplementation during childhood and bisphosphonate during adolescence. Hajdu-Cheney syndrome is a slowly progressive disease with a frequently unfavourable prognosis in elderly patients, especially for the development of dental anomalies, osteoporosis and the progression of skeletal complications requiring orthopedic surgeries.

Subaponeurotic Cerebrospinal Fluid Collection in an Infant.

Subaponeurotic cerebrospinal fluid (CSF) collection is a rare condition. We report a 13-week-old male infant who presented with a swelling in the occipitoparietal region of 4 h duration. Swelling was soft, fluctuant, and contained CSF. It was tapped twice on the 4th and 8th day of appearance and resolved completely by 7 weeks. The condition is benign, and a conservative approach is recommended.

Variable skeletal anatomical features of acromegaly in the skull and craniocervical junction.

OBJECTIVE: This study adds important information regarding the morphological alterations caused by growth hormone hypersecretion in the skull and craniocervical junction (CCJ). A variably asymmetric skull due to acromegaly coexists with expansion of the paranasal sinuses and multiple Wormian bones. CASE REPORT: A pathologically asymmetric dry skull of a European male, aged 38 years at death, with cranial vault and skull base thickening is described. The extensive paranasal sinus pneumatization caused a generalized thinning of the bony walls. The sphenoid sinus expanded intraorbitally, leading to sella enlargement. The orbital asymmetry coexisted with platybasia and hypoplasia of the occipital condyles and the odontoid process. Facial skeleton elongation and mandibular overgrowth were combined with prognathism, malocclusion and overbite. CONCLUSION: Skull and CCJ alterations are of paramount importance when selecting the surgical approach, if surgery is indicated. Consecutively, detailed preoperative evaluation and planning is essential. During surgery, skilled and experienced neurosurgeons recognize anatomical landmarks, use neuronavigation and micro-instrumentation in order to remain on the midline avoiding any potential lethal vascular injury.

Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.

Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification of lamin. Nine distinct pathogenic variants have been identified in 11 patients from nine unrelated families with this disorder. We report a 12-year-old boy with mandibuloacral dysplasia with type B lipodystrophy and a novel homozygous c.1196A>G; p.(Tyr399Cys) mutation in ZMPSTE24. The patient had typical dermatological and skeletal features of mandibuloacral dysplasia with type B lipodystrophy, sparse hair, short stature, mild microcephaly, facial dysmorphism, and a striking failure of ossification of the interparietal region of the occipital bone, up to the position where transverse occipital suture can be observed. Newly recognized signs for mandibuloacral dysplasia with type B lipodystrophy were gaze palsy and ptosis. Delayed closure of cranial sutures and Wormian bones have been described in three patients, but an ossification failure strictly limited to the occipital bone, as seen in the present patient, appears to be unique for mandibuloacral dysplasia with type B lipodystrophy. This observation illustrates that ZMPSTE24 could play a specific role in membranous ossification in the interparietal part of the squama (Inca bone) but not in the intracartilaginous ossification of the supraoccipital. This failure of ossification in the squama appears to be a useful feature for the radiological diagnosis of mandibuloacral dysplasia with type B lipodystrophy. © 2016 Wiley Periodicals, Inc.

Huesos suturales umbilicados / Umbilicated sutural bones

Los huesos suturales son huesos supernumerarios observables en suturas y fontanelas del cráneo, variables en su número, forma, tamaño y posición. Formados desde centros de osificación normales y/o adicionales. Calleja en 1870, describe un hueso sutural en forma de anillo con un centro óseo (umbilicados). Nuestro objetivo de investigación, fue buscar y describir estos huesos. Se utilizaron 71 cráneos de adultos chilenos de ambos sexos, en los cuales se buscó, caracterizó, fotografió y midió a los huesos suturales umbilicados. Se hallaron dos cráneos con presencia de estos huesos, representando el 2,82 % del total de la muestra y el 8 % de los cráneos con huesos suturales. Los resultados concuerdan con la bibliografía, en cuanto a presencia de huesos suturales, así como su relación directa con el sexo y el tamaño del cráneo. También pudimos comprobar la observación y descripción de Calleja, encontrando huesos suturales que cumplían con su descripción. El conocimiento de estos huesos es de utilidad en la identificación médico legal.

The sutural bones are visible supernumerary bones in skull sutures and fontanelle, and are variable in number, shape, size and position. Formed from normal and /or additional ossification, Calleja in 1870, describes a sutural ring-shaped bone with a bone center (umbilicated). Our research objective was to look for and describe these bones. We used 71 skulls of Chilean adults of both sexes, in which we sought, marked, photographed and measured the molluscum sutural bones. Two (2) skulls were found with presence of these bones representing 2.82 % of the total sample and 8 % sutural skulls with bones. The results are consistent with the literature regarding presence of sutural bones, and their direct relationship to sex and size of the skull. We also noted the observation and description by Calleja, finding sutural bones that met their description. Knowledge of these bones is useful in forensic identification.