Abstract Objective. The objective of the study was to present the prevalence of taurodontism in the permanent dentition in individuals with Laurence-Moon/Bardet-Biedl syndromes (LM/BBS). Methods and participants. Thirty-nine individuals were studied, which comprises the whole population of known LM/BBS patients in Norway. Data were collected retrospectively. Panoramic radiographs (OPG) were ...

Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate. Other clinical features include skeletal dysplasia, developmental delay with ...

Patients with hearing loss depend more on their vision on their communication and vice versa. ENT physician faces difficult situation when he or she consults a patient complaining of hearing loss with a problem of vision. The prevalence of ophthalmic abnormalities in deaf population is also higher compared to their ...

: Susac syndrome is characterized by encephalopathy, sensorineural hearing loss, and branch retinal artery occlusion. Additional ocular findings include arteriolar wall hyperfluorescence and Gass plaques. We present a 51-year-old Caucasian woman with ophthalmologic findings indicative of Susac syndrome in the setting of tinnitus and migraine with aura.

The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies ...

A 68-year-old man developed vertigo with a lateral medullary syndrome (figure). Right-beating nystagmus, seen under Frenzel lenses, reversed when a vibrator (60 Hz) was applied on either sternocleidomastoid muscle or either mastoid. When the vibrator was turned off, the nystagmus returned to right-beating (video on the Neurology® Web site at ...

Eagle's syndrome is a disease without a clear lesion that is associated with repeated episodes of pharyngalgia, odynophagia, the sensation of a foreign body in the pharynx, tinnitus, and otalgia in which patients displaying these types of symptoms must be given a differential diagnosis. It is known to be characterized ...

BACKGROUND: Dandy's syndrome, or bilateral vestibular hypofunction and oscillopsia, may cause chronic disequilibrium aggravated by head movement or in the presence of reduced light. It may be secondary to ototoxicity, central nervous system tumors, Ménière's syndrome, infections, or trauma or may be idiopathic. OBJECTIVE: To describe the temporal bone histopathology ...

Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate. Other clinical features include skeletal dysplasia, developmental delay with ...

Treacher Collins syndrome is a disorder characterized by various congenital soft tissue anomalies involving hypoplasia of the zygoma, maxilla, and mandible. A variety of treatments have been reported to date. These treatments can be classified into 2 major types. The first type involves osteotomy for hard tissue such as the ...

Chudley-McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as a cause of CMS by Doherty et al. In this study we have performed exome sequencing of three CMS patients from two unrelated families from the same Dutch village. ...

Objective: We report a previously undescribed association between transitory stapedial myoclonus, objective tinnitus and benign fasciculation syndrome. Method: Case report and review of the world literature regarding stapedial myoclonus. Results: A 30-year-old man with a diagnosis of benign fasciculation syndrome abruptly developed severe, low-pitched tinnitus on the right side. Otoscopic ...

Apert syndrome is a congenital disorder characterized by severe skull malformations and caused by one of two missense mutations, S252W and P253R, on fibroblast growth factor receptor 2 (FGFR2). The molecular bases underlying differential Apert syndrome phenotypes are still poorly understood and it is unclear why cleft palate is more ...

INTRODUCTION: Treacher Collins syndrome (TCS) midfacial involvement associate a skeletal hypoplasia centred on the zygoma to a hypoplasia of all surrounding soft tissues layers and an inferolateral lower lid pseudocoloboma. TCS soft tissue hypoplasia, which has not been well studied, continues to bring challenges in both the indication of surgical ...

Cleft lip with or without cleft palate (CL±P) or cleft palate (CP) are groups of malformations named orofacial clefts (OC), which are the second leading cause of birth defects. This study aimed to analyze clinical and epidemiological features of Brazilian patients with OC, studying cases treated in the reference center ...

Trichorhinophalangeal syndrome type I is a rare autosomal dominant disorder characterized by cone-shaped epiphysis, sparse fine hair, pear-shaped nose and variable growth retardation. The typical craniofacial features include thin upper lip, elongated philtrum, large outstanding ears, shortened posterior facial height associated with short mandibular ramus and reduced and superiorly deflected ...

We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise ...

The hallmarks of Perrault syndrome are progressive sensorineural hearing loss and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous. We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. We detected 14 single nucleotide variations ...

Cleft Lip/Palate-Ectodermal Dysplasia and Ectodermal Dysplasia-Syndactyly Syndrome are rare congenital disorders caused by recessive mutations in the PVRL1 and PVRL4 genes, respectively. These genes encode nectins 1 and 4, an emerging class of molecules acting in cooperation with cadherins to form cell-cell adhesion especially at adherens junctions. Their role in ...

Werner syndrome, also called progeria of the adult and pangeria is a rare autosomal recessive disorder that affects connective tissue throughout the body. It is associated with premature ageing and an increased risk of cancer and other diseases. The mean survival for patients with Werner syndrome is 47 years. Death ...

The duplication of the mandible is an extremely rare case, which was first described by McLaughlin in 1948 as a case report of duplication of the mouth, the tongue and the mandible. Betty in 1956 and Davies in 1973 reported similar cases. The duplication of the mandible may be associated ...

In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and intimal weakening of the aortic arch and valve. Since then three additional cases with similar features have been reported and the diagnosis was suggested in another three individuals. ...

Familial Mediterranean fever (FMF) is a common and well-understood hereditary periodic fever syndrome. Hereditary periodic fever syndromes include a group of multisystem diseases characterized by recurrent fever attacks with inflammation affecting skin, joints, and some other tissues. These are FMF, tumor necrosis factor receptor, tumor necrosis factor receptor associated periodic ...

Eagle's syndrome, an uncommon sequela of an elongated styloid process, can manifest itself as a sensation of a foreign body in the throat and a retrogoniac or anterolateral neck pain often referred to the TMJ and the ear. When treating patients affected by temporomandibular disorders (TMD), complaining of atypical orofacial ...

Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two ...

Hyperdontia or supernumerary teeth without associated syndromes is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardeners syndrome, cleidocranial dysplasia, trichorhinophalangic syndrome, etc. A 15-year-old girl reported for orthodontic treatment with a chief complaint of irregular teeth and unaesthetic ...

We describe a girl presented with facial asymmetry and oral mucosal cleft and with further investigations other anomalies were found including hearing loss, Duane syndrome, Klippel-Feil anomaly, Chiari malformation and accessory bone mass in mandibular ramus leading to the clinical diagnosis of cervico-oculo-acoustic (Wildervanck) syndrome (COAS). The patient underwent surgical ...

Susac's syndrome is an uncommon neurologic disorder, consisting of the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. We report a case of a sudden vision and hearing impairment in a 35-year-old female patient. Magnetic resonance imaging of the brain revealed multiple lesions in the white matter ...

Zimmermann-Laband syndrome (ZLS) is a rare autosomal disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, hypoplasia of the nails or terminal phalanges of the hands and feet, hyperextensibility of joints, hepatosplenomegaly, hirsutism, and intellectual disability. The characteristics of the syndrome are highly variable and complicated. This paper ...

Taurodontism is a rare dental anomaly in which there is an enlarged pulp chamber at the expense of roots with apical displacement of the pulpal floor, giving it a rectangular shape. It is caused by the failure of Hertwig's epithelial root sheath to invaginate at the proper horizontal level. Taurodontism ...

ABSTRACT: BACKGROUND: Prune belly syndrome is a rare condition produced by an early mesodermal defect that causes abdominal abnormalities. However, the literature indicates that disturbances related to ectodermal development may also be present. This is the first case report in the literature to suggest that dental abnormalities are part of ...

Abstract Conclusion: It is suggested that vertigo in patients with Ramsay Hunt syndrome is mostly induced by superior vestibular neuritis consecutive to the reactivation of varicella-zoster virus (VZV) infection from the geniculate ganglion through the faciovestibular anastomosis. Refractory hearing loss in patients with Ramsay Hunt syndrome may be due to ...

OBJECIVES: The use of three-dimensional computed tomography (3D-CT) analyses represents a substantial improvement in planning treatment. The aim of this study is to introduce a new three-dimensional (3D) analysis of clinical value for evaluating asymmetry in cases of craniofacial syndrome. SUBJECTS AND METHODS: Virtual 3D models were reconstructed from CT ...

We describe the case of a 36-year-old woman with a history of vitiligo who presented with an insidious onset of neurologic, vestibular, ocular, and auditory symptoms. She had recently noted the onset of vertigo, tinnitus, and hypersensitivity to sound. Findings on audiometry were within normal limits, although the patient reported ...

Ipilimumab is a fully human monoclonal antibody directed against cytotoxic T-lymphocyte antigen-4 recently approved for the treatment of metastatic melanoma and currently under investigation in the adjuvant setting of high-risk stage III melanoma. The blockade of CTLA-4 induces activation of T cells, with an expected increase in the immunological reaction ...

Objective: The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function. Design: A literature search of peer-reviewed, published journal articles was conducted in online bibliographic databases. Study sample: Three databases for medical research were included in this ...

Angelman syndrome (AS) is a neurogenetic disorder, characterized by intellectual disability, movement or balance disorders, specific abnormal behaviors, and severe speech and language limitations. Due to its low incidence and the nonspecifity of developmental problems in newborns and young children, AS is not easily identified by clinical pediatricians. The aim ...

OBJECTIVETo evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as homozygous 11p15-p14 deletion syndrome (MIM #606528).METHODSProspective clinical follow-up and genetic analysis by direct sequencing, Multiplex Ligation-dependent Probe Amplification, and microsatellite markers.RESULTSGenetic testing identified the previous described homozygous deletion in 11p15, USH1C:c.(90+592)_ABCC8:c.(2694-528)del. Fourteen patients ...

Susac's syndrome is characterized by the clinical triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. We here report a case of 46year old woman with a sudden diminution in visual acuity at the left eye, headache and decreased hearing at the right ear with mild confusion considered ...

Purpose :  Dental agenesis is the most common anomaly of dental development and can be a component of a congenital syndrome. The purpose of this study was to evaluate the prevalence of agenesis and to describe patterns of tooth agenesis in patients with Crouzon or Apert syndrome compared with nonsyndromic ...

Oligodontia is a rare genetic disorder which represents the congenital absence of more than six teeth in primary, permanent or both dentitions. It is usually a part of a syndrome and seldom occurs as an isolated entity. Genes responsible for non syndromic oligodontia are found to be MSX1 and PAX9 ...

The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, cataract, cardiomyopathy, cleft lip, and immunodeficiency. Only 14 cases of Vici syndrome have yet been reported, several involving morphologic and functional defects in addition to ...

Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3, a dual zinc-finger transcription factor involved in vertebrate embryonic development. In this clinical case study we report on a follow-up of a phenotype associated with a ...

An extremely premature male neonate presented with an unusual multisystem dysfunction within the first 24 to 48 hours of life. The unfolding of clinical events and investigations revealed a transient myeloproliferative disorder (TMD). TMD was the main indication for karyotyping of this premature infant without clinical symptoms of Down syndrome. ...

A wedge-shaped anterior hairline extension is a very rare skin manifestation usually associated with congenital anomalies including a Tessier number 10 cleft. Other associated conditions are the Tessier number 9 cleft, the Fraser syndrome, and the Manitoba oculotrichoanal syndrome (MOTA syndrome). The Tessier number 10 cleft features include a coloboma ...

ABSTRACT: BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. ...

An early second-trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita-like syndrome associated with median clefts is reported. A molecular biological work up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and post-mortem radiogram were performed to confirm the ultrasound diagnosis. Prenatal diagnosis enabled early detection ...

OBJECTIVES: To document the incidence of difficult intubation following mandibular distraction osteogenesis (MDO) in children with severe mandibular hypoplasia. BACKGROUND: Syndromes associated with significant mandibular hypoplasia, especially Pierre Robin sequence, provide a challenge in airway management both in and out of the operating room. Mandibular advancement using mandibular distraction osteogenesis ...

The human deafness-pigmentation syndromes Waardenburg syndrome type 2a and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF. To illuminate differences between cutaneous and otic melanocytes in these syndromes, their development and survival in heterozygous Microphthalmia-White (Mitf(Mi-wh) /+) ...

Cleft lip and/or palate represent the most common congenital anomaly of the face. AIM: To describe the correlation between non-syndromic cleft lip and/or palate and gender, and its severity in the Brazilian population. METHODS: Cross-sectional study, between 2009 and 2011, in a sample of 366 patients. The data was analyzed ...