Bilateral Petrous Apex Cephalocele Associated with a Wide Sella.

ABSTRACT: Petrous apex cephalocele (PAC) is a rare type of cephalocele. It is usually asymptomatic. It can be unilateral or bilateral. Bilateral cases are less common. They are etiologically and clinically different entities from unilateral ones. A 56-year-old female patient presented to the hospital with the complaint of a severe nonspecific headache. She has been examined in ear nose throat, ophthalmology, and finally neurology clinics. Bilateral PAC was incidentally found in magnetic resonance imaging (MRi) examination. Headache was associated with PAC because no additional pathology could explain the clinical symptomatology. There is a proven relationship between empty sella and PAC. Regarding PAC less than 50 cases are known. Our paper aims to contribute to the literature by exhibiting etiologic and clinic differences between unilateral and bilateral PAC. It highlights the relationship between PAC and broad sella that is a different entity from empty sella and shows this remarkable radiological appearance. The authors presented our case accompanied by clinical and MRi findings.

CHARGE syndrome without colobomas: Ophthalmic findings.

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. In our cohort, all patients had a positive CHD7 mutation, in addition to a clinical diagnosis. 19.4% (13/67) of CHARGE patients did not have a coloboma in either eye. 69.2% (9/13) had strabismus, 76.9% (10/13) had a refractive error that warranted refractive correction, 23.1% (3/13) had amblyopia, 38.5% (5/13) had nasolacrimal duct obstruction, 30.8% (4/13) had dry eye syndrome and exposure keratopathy, 15.4% (2/13) had ptosis, 15.4% (2/13) had blepharitis, 15.4% (2/13) had Cortical Visual Impairment, 7.7% (1/13) of patients had optic nerve drusen, 7.7% (1/13) had Marcus Gunn Jaw Winking, and 7.7% (1/13) with an eyelid nevus. There are numerous ophthalmic findings in individuals with CHARGE Syndrome without colobomas. No study to date has evaluated the ophthalmic findings in CHD7 positive CHARGE patients without colobomas. These findings need to be assessed and treated to ensure optimal vision in the CHARGE patient population. Absence of coloboma does not rule out a diagnosis of CHARGE syndrome, and if there is a clinical suspicion, clinical confirmation then genetic testing would be warranted.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, brachydactyly, dental anomalies and mild osteoporosis. To date, only one large French Canadian family and a Finnish woman have been reported with the condition. In both, intragenic duplication encompassing exons 3-5 of the RUNX2 gene was identified. We describe a new, three-generation family with clinical features of MDMHB and an intragenic tandem duplication of RUNX2 exons 3-6. Dental problems were the primary presenting feature in all four affected individuals. We compare the features in our family to those previously reported in MDMHB, review the natural history of this condition and highlight the importance of considering an underlying skeletal dysplasia in patients presenting with significant dental problems and other suggestive features, including disproportionate short stature and/or digital anomalies.

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.

The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor ear anomalies, clubfeet and first and 5 ray defects. The findings from this study are useful for better understanding the morphological consequences of disorders of EIF4A3, and having a better picture of the anatomic characteristics of the syndrome for a better therapeutic planning. Twenty-four angular and linear variables were measured to assess anteroposterior and vertical (superior-inferior) position of the cranial base, maxilla, mandible, and facial profile. The cephalometric radiographic analysis was performed on 9 individuals with RCPS, obtained at a mean age of 10.3 years, and compared with randomly selected age-matched 9 controls, without clefts and with well-balanced faces, with mean age of 10.6 years (both groups range 8.1 to 13.7 years). t test was used for analysis of means and Levene test for equality of variances. The syndrome group presented severe mandibular hypoplasia and retrognathism (P = 0.009, P = 0.001), greater facial convexity (N'PnPog and N'SnPog, P < 0.05) in syndrome group compared with the control group (P = 0.003, P = 0.004). In conclusion, in the RCPS group, most craniofacial defects affect the lower facial third, considering the severely affected mandible.

A Novel Method to Calculate the Volume of Alveolar Cleft Defect Before Surgery.

BACKGROUND: This study aimed to evaluate a novel subtractive method for the precise calculation of alveolar cleft defect volume before surgery using the three-dimensional imaging software Mimics. METHODS: Ten patients (3 female, 7 male, age range 8-12 years) with unilateral alveolar cleft were enrolled in the study. Preoperative helical computed tomography scans were performed for all patients. A new subtractive method was introduced to precisely calculate the alveolar cleft defect volume before surgery with the aid of Mimics. The DICOM data of every patient were processed using the subtractive method. Statistical analyses were performed using Pearson's correlation test and t test. RESULTS: The mean volume of the alveolar cleft defect was 1811.97 ±â€Š817.90 mm. The mean time spent to calculate an alveolar cleft defect volume was 60.60 ±â€Š11.67 minutes. The Pearson correlation test (r = 0.38, P = 0.279) indicated a poor correlation between alveolar cleft defect volume and calculation time. CONCLUSIONS: Preoperative knowledge of defect volume is crucial in alveolar cleft repair. Accurate estimation of graft volume in alveolar cleft patients can be performed using this new subtractive method. Compared with previous methods, this new subtractive method is time-saving and suitable for both unilateral and bilateral clefts. Surgeons can use this method to design a surgical plan for each patient before surgery within a short time, and with less cost.

Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia.

Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis. In this study, we analyzed craniofacial morphology in a mouse model of achondroplasia, in which fibroblast growth factor receptor 3 (FGFR3) is specifically activated in cartilage ( Fgfr3ach mice), and investigated the mechanisms of jaw deformities caused by this mutation. Furthermore, we analyzed the effect of CNP on the maxillofacial area in these animals. Fgfr3ach mice exhibited midfacial hypoplasia, especially in the sagittal direction, caused by impaired endochondral ossification in craniofacial cartilage and by premature closure of the spheno-occipital synchondrosis, an important growth center in craniomaxillofacial skeletogenesis. We crossed Fgfr3ach mice with transgenic mice in which CNP is expressed in the liver under the control of the human serum amyloid-P component promoter, resulting in elevated levels of circulatory CNP ( Fgfr3ach/SAP-Nppc-Tg mice). In the progeny, midfacial hypoplasia in the sagittal direction observed in Fgfr3ach mice was improved significantly by restoring the thickness of synchondrosis and promoting proliferation of chondrocytes in the craniofacial cartilage. In addition, the foramen magnum stenosis observed in Fgfr3ach mice was significantly ameliorated in Fgfr3ach/SAP-Nppc-Tg mice due to enhanced endochondral bone growth of the anterior intraoccipital synchondrosis. These results clearly demonstrate the therapeutic potential of CNP for treatment of midfacial hypoplasia and foramen magnum stenosis in achondroplasia.

A Rare Case of Hanhart Syndrome with Mild Developmental Delay.

Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterized by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptoms can differ from patient to patient. Some affected individuals may have only a part of these clinical features. In this case report, we want to present a Turkish girl with hypoglossia, micrognathia and peromelia who was diagnosed according to the clinical and radiographic findings.

Keratocystic Odontogenic Tumour Mimicking Lateral Periodontal Cyst: A Diagnostic Dilemma.

The Keratocystic Odontogenic Tumor is a developmental cyst derived from the enamel organ or from the dental lamina. It is a benign, multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and has a potential for aggressive, infiltrative behavior and recurrence. Keratocystic Odontogenic Tumors have a predilection for males and occurs mainly in the second and third decade of life, most commonly in the mandible, mostly in the posterior body, the angle and the ascending ramus. It extends in the intramedullary space making it difficult to diagnose at an early stage. It is regarded as a distinctive entity because of its characteristic histology, proliferation kinetics and behavior. Main in 1970 described, collateral variant of Keratocystic Odontogenic Tumor, which presents adjacent to the roots of the teeth usually in the mandibular premolar region and radiologically is indistinguishable from the lateral periodontal cyst and gingival cyst.

Mandibular abnormalities in a patient with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the presence of cutaneous neurofibromas, multiple cafd-au-lait spots and pigmented nodules of the iris known as Lisch nodules. In some cases, the diagnosis can be made at birth while in others the diagnosis is made later in life based on the appearance of additional criteria. We describe radiographic abnormalities of the mandible in a young adult male with NF1.

Congenital maxillomandibular fusion: a report of three cases.

Congenital fusion of the mandible to the maxilla (syngnathia) is a rare disorder. The first case was reported in 1936 and only a few cases have been reported in the literature since then. This paper reports three new cases of syngnathia. Clinical and radiographic features are presented, as well as surgical management and complications.

A 3-dimensional method for analyzing facial soft-tissue morphology of patients with jaw deformities.

INTRODUCTION: Traditional cephalometric radiographs can analyze facial soft-tissues 2 dimensionally. Because they cannot provide information about the nose, lips, cheeks, and mouth, another method is needed to analyze these soft tissues. We introduce a new method for analyzing the 3-dimensional (3D) shape and size of facial soft-tissue morphology. METHODS: A 3D average face model was constructed based on 3D computed tomography images of Japanese male and female adult volunteers who had well-balanced faces and normal occlusions. To test the feasibility of evaluating the quantitative effects of surgery, preoperative and postoperative 3D computed tomography images of facial soft tissues of 1 man and 1 woman were superimposed on the average faces. RESULTS: This quantitative assessment provided a comprehensive evaluation of the characteristics that separate size and shape. It was possible to view the superimposed images from any desired angle on a personal computer. CONCLUSIONS: This method provides easy-to-understand information for patients and appears to be useful for clinical diagnosis and pretreatment and posttreatment soft-tissue morphologic evaluations of patients with jaw deformities.

Soft tissue facial volumes and shape in skeletal Class III patients before and after orthognathic surgery treatment.

BACKGROUND: To obtain the best surgical results in orthognathic surgery, treatment planning and the evaluation of results should be performed on measurable three-dimensional reproductions of the face of the patients, and compared to reference subjects. METHODS: Seven women aged 18-35 years, all with a skeletal Class III and mandibular asymmetry, were assessed both before (on average, 2 months) and after (on average, 10.7 months) surgical intervention (mandibular reduction by sagittal split osteotomy and LeFort I maxillary advancement). The three-dimensional coordinates of 50 soft tissue facial landmarks (face, eyes, nose, mouth and lips, ears) were collected with a noninvasive, electromagnetic digitizer; facial volumes were estimated, and compared to reference values collected in 87 healthy women of the same age and ethnic group. Inter-individual modifications in facial shape were also assessed. RESULTS: Before surgery the patients had smaller faces than the reference women, with larger lower lips and noses. A large within-group variability was found. Surgical treatment significantly reduced total facial volume and mandibular volume, increased total and upper lip volumes (Student's t test, p<0.05), and made all values more homogenous within the group. Shape differences were significantly larger before than after surgery. On average, right side gonion was the landmark that moved the most, closely followed by menton, while the tragi and ala nasi moved the least. The three-dimensional approach used in this study enabled quantitative evaluation of the final soft tissue results of surgery, without submitting the patients to invasive procedures.

Congenital fusion of the maxilla and mandible: brief case report.

Congenital fusion of the mandible and maxilla is a rare anomaly usually seen in association with various syndromes. Reports of isolated cases of bony fusion of the jaws are sparse. Only 10 reported cases were found in the literature search. Maxillomandibular fusion restricts mouth opening, causing feeding problems and difficulties in swallowing, respiration, growth, and development, and thus must be treated early. We report a case of congenital fusion of the mandible and maxilla in a 1-year-old boy and describe the clinical features of this anomaly to add to the existing literature on the subject. This is our second encounter of such a case.

Impairment of lower jaw growth in developing zebrafish exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxin and reduced hedgehog expression.

2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) has been shown to cause a multitude of detrimental effects to developing zebrafish (Danio rerio). Previously, we demonstrated that jaw growth was impaired by TCDD exposure, but the exact mechanism underlying these malformations remained unknown. In the present study, we investigated the involvement of hedgehog genes and their downstream signaling in TCDD-mediated jaw malformation. We demonstrate that the developing lower jaw expresses sonic hedgehog a (shha), sonic hedgehog b (shhb) and their receptors, patched1 (ptc1) and patched2 (ptc2), as well as the downstream transcription factors, gli1 and gli2a. Loss of Hh signaling in mutants (sonic you) and larvae treated with a Hh inhibitor (cyclopamine), resulted in similar effects as those caused by TCDD. Moreover, TCDD exposure caused downregulation of shha and shhb in a manner dependent on aryl hydrocarbon receptor 2 (ahr2). Although this suggested an involvement of Hh signaling in TCDD-mediated impairment of jaw growth, we did not observe downregulation of ptc1 and ptc2, receptors dependent on Hh signaling. Furthermore, while the overall occurrence of apoptosis in the developing jaw was minimal, it was significantly increased in larvae treated with cyclopamine. In contrast, both TCDD and cyclopamine markedly reduced immunoreactivity against phosphorylated histone 3, a cell proliferation marker in the developing jaw. Taken together, our data suggest that Ahr2-mediated downregulation of Hh signaling, leading to a failure of cell proliferation, contributes to TCDD induced inhibition of lower jaw growth. TCDD may impair jaw growth through other pathway(s) in addition to Hh signaling.

Lobster-claw syndrome.

Lobster-Claw syndrome is a rare autosomal dominant, hand-foot malformation with Oro-dental features. This is a rare condition and from the available reports so far, cases being reported are less than 1%. Most reports have focused on the hand-foot deformity of this syndrome. This paper highlights the typical Oro-dental features associated with this syndrome such as retained deciduous teeth, hypodontia and variation in crown size, arch length and arch width.

Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

A 13-year-old patient with dermatosparaxis (Ehlers-Danlos syndrome type VIIC), an autosomal recessive disorder of procollagen-I-N-proteinase, is presented. The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility. The reported anomalies suggest the need for expanding the present phenotypic spectrum. This is the first report on oral findings in the syndrome.