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Craniofacial dysplasia

Maxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis...
March 9, 2018: BMC Medical Genetics
Stephen L Greene, Chung How Kau, Somsak Sittitavornwong, Kathlyn Powell, Noel K Childers, Mary MacDougall, Ejvis Lamani
Cleidocranial dysplasia (CCD, MIM 119600) is a rare autosomal dominant disorder affecting bone, cartilage, craniofacial growth, and tooth formation leading to supernumerary teeth. Few reports delineate the genotype-phenotype correlations related to the variations in craniofacial morphology and patterning of the dentition and the complexity of treating patient's malocclusion. Successful management of the craniofacial deformities in patients with CCD requires a multidisciplinary team of healthcare specialists...
March 1, 2018: Journal of Craniofacial Surgery
Galal Omami
Cleidocranial dysplasia is an extremely rare familial disorder characterized by partial or complete absence of clavicles, characteristic craniofacial deformities, and the presence of numerous supernumerary and unerupted teeth. Here, the author reviews the striking radiographic findings of cleidocranial dysplasia in a 16-year-old adolescent boy who presented with delayed teeth eruption.
February 2018: Radiology Case Reports
Hayri Ogul, Emine Keskin
Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.
February 26, 2018: Journal of Craniofacial Surgery
Andrea Borghesi, Ingrid Tonni, Stefania Pezzotti, Roberto Maroldi
Peripheral osteoma is the most common subtype of osteoma that arises most frequently in the craniofacial bones. It may occur at any age with a male-to-female ratio of 2:1. Peripheral osteoma may affect the mandible, particularly the ramus and the condyle. Compound odontoma is a subtype of odontoma that occurs in young subjects without gender predilection. It affects the maxilla more frequently than the mandible. Focal cemento-osseous dysplasia and cemento-ossifying fibroma are 2 benign fibro-osseous lesions with a female predominance that occur most commonly in the posterior region of the mandible...
December 2017: Radiology Case Reports
Hüseyin Şan, Kürşat Okuyucu, Ali Ozan Öner, Özdeş Emer, Alper Özgür Karaçalıoğlu
Fibrous dysplasia (FD) is a benign fibroosseous bone disorder. It has poliostotic and monostotic patterns. Monostotic FD is frequently asymptomatic and is usually discovered incidentally by radiologic imaging performed for other reasons. Bone scintigraphy is valuable for identifying disease extent. Craniofacial FD (CFD) is a form of the disease where lesions are limited to contiguous bones of the craniofacial skeleton. We presented a case with monostotic CFD who was detected incidentally on bone scintigraphy single-photon emission computed tomography/computerized tomography while being investigated for inflammatory arthropaties...
February 1, 2018: Molecular Imaging and Radionuclide Therapy
Molly Housley Smith, Donald M Cohen, Joseph Katz, Indraneel Bhattacharyya, Nadim M Islam
BACKGROUND AND OVERVIEW: Segmental odontomaxillary dysplasia (SOD) is a characteristic developmental abnormality that demonstrates posterior maxillary enlargement, dental abnormalities, altered bone trabeculation, and possible cutaneous findings. Only 62 cases have been reported in the English-language literature. CASE DESCRIPTION: The authors described 3 newly diagnosed cases of SOD, all found in the left posterior maxilla in adolescent female patients; they reviewed the literature to elucidate this rare entity...
February 2018: Journal of the American Dental Association
Keisuke Nagasaki, Gen Nishimura, Toru Kikuchi, Hiromi Nyuzuki, Sunao Sasaki, Yohei Ogawa, Akihiko Saitoh
Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother)...
January 31, 2018: American Journal of Medical Genetics. Part A
Nicole J Ward, Darrell Green, Janet Higgins, Tamas Dalmay, Andrea Münsterberg, Simon Moxon, Grant N Wheeler
BACKGROUND: The neural crest (NC) is a class of transitory stem cell-like cells unique to vertebrate embryos. NC cells arise within the dorsal neural tube where they undergo an epithelial to mesenchymal transition in order to migrate and differentiate throughout the developing embryo. The derivative cell types give rise to multiple tissues, including the craniofacial skeleton, peripheral nervous system and skin pigment cells. Several well-studied gene regulatory networks underpin NC development, which when disrupted can lead to various neurocristopathies such as craniofrontonasal dysplasia, DiGeorge syndrome and some forms of cancer...
January 18, 2018: BMC Genomics
Kei Tamai, Katsuhiko Tada, Akihito Takeuchi, Makoto Nakamura, Hidenori Marunaka, Yosuke Washio, Hiroyuki Tanaka, Fuyuki Miya, Nobuhiko Okamoto, Misao Kageyama
Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified...
January 17, 2018: American Journal of Medical Genetics. Part A
Giorgio Novelli, Emanuela Ardito, Fabio Mazzoleni, Alberto Bozzetti, Davide Sozzi
Introduction: Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form. Case report: We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity...
April 2017: Annali di Stomatologia
Jiajia Zhao, Xin Zhou, Qingming Tang, Ran Yu, Shaoling Yu, Yanlin Long, Cen Cao, Jun Han, Anbing Shi, Jeremy J Mao, Xiong Chen, Lili Chen
Skeletal mandibular hypoplasia (SMH), one of the common types of craniofacial deformities, seriously affects appearance, chewing, pronunciation, and breathing. Moreover, SMH is prone to inducing obstructive sleep apnea syndrome. We found that brain and muscle ARNT-like 1 (BMAL1), the core component of the molecular circadian oscillator, was significantly decreased in mandibles of juvenile SMH patients. Accordingly, SMH was observed in circadian-rhythm-disrupted or BMAL1-deficient mice. RNA sequencing and protein chip analyses suggested that matrix metallopeptidase 3 (MMP3) is the potential target of BMAL1...
December 14, 2017: Stem Cell Reports
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
Pamela Trejo, Frank Rauch, Francis H Glorieux, Jean Ouellet, Thierry Benaroch, Philippe M Campeau
Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is a rare entity with a recessive inheritance. In this report, we describe 3 affected members of the same family who present with short stature, hyperlaxity with secondary spinal malalignment, ulnar subluxation, developmental dysplasia of the hips, and craniofacial alterations; one member also had learning difficulties. DNA analysis showed compound heterozygous variants in the B3GALT6 gene (c.901_921dup, c.511C>T) in all 3 patients, inherited from the parents...
November 2017: Molecular Syndromology
Kumar Nilesh, Prashant Punde, M I Parkar
Fibrous dysplasia is a benign bone disease first described by Lichtenstein in 1938. It is characterized by progressive replacement of normal bone with fibro-osseous connective tissue. When the disease involves craniofacial skeleton, it results in significant disfigurement and other functional problems. This paper reports a case of large craniofacial fibrous dysplasia involving zygomaticomaxillary complex in a 24-year old male patient. Clinical presentation and imaging characteristics of the pathology is discussed in detail...
September 2017: World Journal of Plastic Surgery
Alison M Boyce, Carmen Brewer, Timothy R DeKlotz, Christopher K Zalewski, Kelly A King, Michael T Collins, H Jeffrey Kim
Importance: Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare bone and endocrine disorders in which expansile fibro-osseous lesions result in deformity, pain, and functional impairment. The effect of FD on hearing and otologic function has not been established. Objectives: To characterize audiologic and otologic manifestations in a large cohort of individuals with FD/MAS and to investigate potential mechanisms of hearing loss. Design, Setting, and Participants: In this natural history study, individuals with craniofacial FD seen at a clinical research center underwent clinical, biochemical, computed tomographic, audiologic, and otolaryngologic evaluations...
February 1, 2018: JAMA Otolaryngology—Head & Neck Surgery
Emilie Farrow, Romain Nicot, Axel Wiss, Amélie Laborde, Joël Ferri
In this review, we aimed to depict the clinical, radiological, and genetic features of cleidocranial dysplasia (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications.The most common craniofacial features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a hypertelorism, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the shoulders, a short stature, and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular...
November 17, 2017: Journal of Craniofacial Surgery
Swati S Gotmare, Avinash Tamgadge, Sandhya Tamgadge, Kashmira S Kesarkar
Juvenile ossifying fibroma (JOF) is a rare, benign, locally aggressive entity of the extragnathic craniofacial bones with a high tendency towards recurrence. Two distinctive microscopic patterns of juvenile ossifying fibroma have been described: a trabecular juvenile ossifying fibroma (TrJOF) and a psammomatoid juvenile ossifying fibroma (PJOF). Psammomatoid variant is predominantly a craniofacial lesion and occurs rarely in the jaws. The pathognomonic histopathologic feature is the presence of spherical ossicles, which are similar to psammoma bodies...
November 2017: Iranian Journal of Medical Sciences
V Valentini, A Cassoni, V Terenzi, M Della Monaca, M T Fadda, O Rajabtork Zadeh, I Raponi, A Anelli, G Iannetti
The mainstay of treatment of craniofacial dysplasia (CFD) remains surgery once clinical observation has been excluded. Nevertheless, disagreement remains about the type of surgical intervention (remodelling versus radical resection). The aim of this paper is to present our experience until 2013 comparing CFD management between 1980 and 2002 and between 2003 and 2013 and to propose our surgical algorithm. From January 2003 to December 2013, 41 new patients (18 males and 23 females) with histologically demonstrated CFD presented to our Department...
October 2017: Acta Otorhinolaryngologica Italica
S Azennoud, R Arouagh, S Harchali, S El Merrouni, M Zarrouki, M El Yadari, F El Ibrahimi, O Bahia, A El Hassan, A Berraho
No abstract text is available yet for this article.
December 2017: Journal Français D'ophtalmologie
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