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Craniofacial dysplasia

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https://www.readbyqxmd.com/read/27920634/frontonasal-dysplasia-towards-an-understanding-of-molecular-and-developmental-aetiology
#1
REVIEW
Peter G Farlie, Naomi L Baker, Patrick Yap, Tiong Y Tan
The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27893558/medial-femoral-condyle-free-flap-for-premaxillary-reconstruction-in-median-facial-dysplasia
#2
Jong Woo Choi, Woo Shik Jeong, Soon Man Kwon, Kyung S Koh
OBJECTIVE: Median facial dysplasia is a distinct development anomaly of the craniofacial region that is characterized by deficient mid facial structures. Medial femoral condyle free flap could be used as a bony flap, and the unique characteristics of this flap provide the surgeons with the periosteal component as well. In this work, the authors present our experience with a patient of median facial dysplasia with unilateral cleft lip, cleft palate, and premaxillary deficiency. METHODS: The patient was diagnosed with median facial dysplasia accompanied by unilateral cleft lip, cleft palate, and premaxillary...
November 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27857528/mccune-albright-syndrome-association-of-fibrous-dysplasia-caf%C3%A3-au-lait-skin-spots-and-hyperthyroidism-case-report
#3
Iulian Raus, Roxana Elena Coroiu
McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27784318/dietary-phosphate-supplement-does-not-rescue-skeletal-phenotype-in-a-mouse-model-for-craniometaphyseal-dysplasia
#4
Yaling Liu, Eliane H Dutra, Ernst J Reichenberger, I-Ping Chen
BACKGROUND: Mutations in the human progressive ankylosis gene (ANKH; Mus musculus ortholog Ank) have been identified as cause for craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and flared metaphyses of long bones. We previously reported a knock-in (KI) mouse model (Ank (KI/KI)) for CMD and showed transiently lower serum phosphate (Pi) as well as significantly higher mRNA levels of fibroblast growth factor 23 (Fgf23) in Ank (KI/KI) mice...
October 26, 2016: Journal of Negative Results in Biomedicine
https://www.readbyqxmd.com/read/27747122/use-of-zoledronic-acid-in-paediatric-craniofacial-fibrous-dysplasia
#5
Chiara Di Pede, Sabrina Congedi, Sara Rossin, Antuan Divisic, Alesandra De Gregorio, Caterina Agosto, Igor Catalano, Alessandro Mazza, Leonardo Sartori, Stefano Masiero, Franca Benini
We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD) with severe and chronic pain who was successfully treated with zoledronic acid (ZOL): a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population.
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27740959/surgical-strategies-for-soft-tissue-management-in-hypertelorbitism
#6
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Enrico Ghizoni, Cesar Augusto Raposo-Amaral
BACKGROUND: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. METHODS: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients...
October 6, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27702404/-fibrous-dysplasia-a-heterogeneous-disease
#7
B C J Majoor, N M Appelman-Dijkstra, M A J van de Sande, H M Kroon, N A T Hamdy, P D S Dijkstra
Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27671791/viable-ednra-y129f-mice-feature-human-mandibulofacial-dysostosis-with-alopecia-mfda-syndrome-due-to-the-homologue-mutation
#8
Sibylle Sabrautzki, Michael A Sandholzer, Bettina Lorenz-Depiereux, Robert Brommage, Gerhard Przemeck, Ingrid L Vargas Panesso, Alexandra Vernaleken, Lillian Garrett, Katharina Baron, Ali O Yildirim, Jan Rozman, Birgit Rathkolb, Christine Gau, Wolfgang Hans, Sabine M Hoelter, Susan Marschall, Claudia Stoeger, Lore Becker, Helmut Fuchs, Valerie Gailus-Durner, Martin Klingenspor, Thomas Klopstock, Christoph Lengger, Leuchtenberger Stefanie, Eckhard Wolf, Tim M Strom, Wolfgang Wurst, Martin Hrabě de Angelis
Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysostosis with alopecia (MFDA, OMIM 616367) syndrome...
December 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/27649526/outcome-of-long-term-bisphosphonate-therapy-in-mccune-albright-syndrome-and-polyostotic-fibrous-dysplasia
#9
Bas Cj Majoor, Natasha M Appelman-Dijkstra, Martha Fiocco, Michiel Aj van de Sande, Pd Sander Dijkstra, Neveen At Hamdy
McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies, and café-au-lait patches. FD patients have been shown to respond favorably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. We evaluated the biochemical (bone turnover markers [BTMs]) and clinical (pain reduction) outcome of bisphosphonate therapy in 11 patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range, 2 to 25 years)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27617807/orbitocranial-fibrous-dysplasia-outcome-of-radical-resection-and-immediate-reconstruction-with-titanium-mesh-and-pericranial-flap
#10
Khalid Nasser Fadle, Ahmed Gaber Hassanein, Abdin K Kasim
INTRODUCTION: Fibrous dysplasia (FD) is a non-neoplastic developmental fibro-osseous disease. It represents 2.5% of all bone tumors and 5% to 7% of the benign bone tumors. Orbitocranial region is involved in about 20% of the patients. The main presentations are craniofacial deformity and headache. Loss of vision is the most devastating result of this disease. There is no medical treatment to cure or prevent FD. Radiation therapy is contraindicated. Surgery for the orbitocranial FD is often challenging because of the proximity of neurovascular and ocular structures...
September 9, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27554863/paleodysmorphology-and-paleoteratology-diagnosing-and-interpreting-congenital-conditions-of-the-skeleton-in-anthropological-contexts
#11
REVIEW
Roelof-Jan Oostra, Lucas Boer, Alie E van der Merwe
Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Skeletal dysplasias (osteochondrodysplasias) interfere with the histological formation, growth and maturation of skeletal tissues leading to diminished postural length, but the building plan of the body is unaffected...
October 2016: Clinical Anatomy
https://www.readbyqxmd.com/read/27513769/three-dimensional-printing-of-reduction-template-in-the-contouring-of-craniofacial-fibrous-dysplasia
#12
Ruichen Wang, Guizhen Li, Chunming Liu, Chiyu Jia, Yan Han
BACKGROUND: Contouring is a minimal invasive procedure to remove excess lesions and restore facial appearance of patients with craniofacial fibrous dysplasia; however, it is difficult to measure the amount of excess lesions. This study is to demonstrate the use of reduction template produced by three-dimensional printer in contouring procedure. METHODS: Computed tomography data were reconstructed into a three-dimensional model by Mimics software. The unaffected side was mirrored and superimposed on the affected side...
October 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27493082/fibrous-dysplasia-of-bone-craniofacial-and-dental-implications
#13
Andrea Burke, Michael T Collins, Alison M Boyce
Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase, and elevated levels of cyclic AMP, which act on downstream signaling pathways, and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome)...
August 5, 2016: Oral Diseases
https://www.readbyqxmd.com/read/27476655/arcn1-mutations-cause-a-recognizable-craniofacial-syndrome-due-to-copi-mediated-transport-defects
#14
Kosuke Izumi, Maggie Brett, Eriko Nishi, Séverine Drunat, Ee-Shien Tan, Katsunori Fujiki, Sophie Lebon, Breana Cham, Koji Masuda, Michiko Arakawa, Adeline Jacquinet, Yusuke Yamazumi, Shu-Ting Chen, Alain Verloes, Yuki Okada, Yuki Katou, Tomohiko Nakamura, Tetsu Akiyama, Pierre Gressens, Roger Foo, Sandrine Passemard, Ene-Choo Tan, Vincent El Ghouzzi, Katsuhiko Shirahige
Cellular homeostasis is maintained by the highly organized cooperation of intracellular trafficking systems, including COPI, COPII, and clathrin complexes. COPI is a coatomer protein complex responsible for intracellular protein transport between the endoplasmic reticulum and the Golgi apparatus. The importance of such intracellular transport mechanisms is underscored by the various disorders, including skeletal disorders such as cranio-lenticulo-sutural dysplasia and osteogenesis imperfect, caused by mutations in the COPII coatomer complex...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27405032/juvenile-psammomatoid-ossifying-fibroma-findings-on-bone-scan
#15
Rodrigo Cárdenas-Perilla, Consuelo Santamaria, Juan Manuel Muñoz-Acosta
Juvenile psammomatoid ossifying fibroma is a rare bone-forming tumor seen in craniofacial bones, which affects mainly young patients. We report scintigraphic and SPECT/CT findings of 2 patients diagnosed with this disease. One patient presented with suspicion of fibrous dysplasia and the other with suspected malignancy in the setting of a rapidly growing mass. Both cases highlight the importance of recognizing this type of tumor in young patients with abnormal uptake in paranasal bones and sinuses within the range of potential differential diagnoses including sarcomas, fibrous dysplasia, and odontogenic tumors...
September 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27378689/ectodysplasin-signalling-deficiency-in-mouse-models-of-hypohidrotic-ectodermal-dysplasia-leads-to-middle-ear-and-nasal-pathology
#16
Ali Azar, Chiara Piccinelli, Helen Brown, Denis Headon, Michael Cheeseman
Hypohidrotic ectodermal dysplasia (HED) results from mutation of the EDA, EDAR or EDARADD genes and is characterized by reduced or absent eccrine sweat glands, hair follicles and teeth, and defective formation of salivary, mammary and craniofacial glands. Mouse models with HED also carry Eda, Edar or Edaradd mutations and have defects that map to the same structures. Patients with HED have ear, nose and throat disease, but this has not been investigated in mice bearing comparable genetic mutations. We report that otitis media, rhinitis and nasopharyngitis occur at high frequency in Eda and Edar mutant mice and explore the pathogenic mechanisms related to glandular function, microbial and immune parameters in these lines...
July 4, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27325544/oral-and-craniofacial-manifestations-of-ellis-van-creveld-syndrome-case-series
#17
Elif Bahar Tuna, Mine Koruyucu, Esma Kürklü, Muhsin Çifter, Koray Gençay, Figen Seymen, Beyhan Tüysüz
PURPOSE: The objective of this case series was to determine the oral, dental and craniofacial features of patients with EvC syndrome. MATERIAL AND METHODS: Eight patients with EvC syndrome were enrolled. A complete family history, pedigree analysis, detailed medical history were collected. Findings of clinical examination, including craniofacial and orodental manifestations, and radiological investigations were thoroughly studied. RESULTS: All eight patients had characteristic face, hypertrophic frenulum, conical and peg-shaped teeth, hypodontia of deciduous and/or permanent teeth and also skeletal dysplasia, small chest, short stature and hypoplastic nails...
August 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27272309/congenital-cholesteatoma-together-with-ossicular-chain-anomaly
#18
Leyla Kansu, Levent N Ozluoglu
Cholesteatomas that occur under an intact tympanic membrane in the absence of prior surgical procedures or perforation are defined as congenital cholesteatomas. These entities are rarely seen, because they do not cause any major symptoms unless they touch the ossicular chain. Likewise, isolated congenital ossicular anomalies that occur independently of external ear anomalies and craniofacial dysplasia are also rarely seen. Here, we report a patient who presented with congenital cholesteatoma associated with anomalies of the ossicular chain and discuss its pathogenesis...
June 8, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27240702/clinical-and-radiographic-delineation-of-bent-bone-dysplasia-fgfr2-type-or-bent-bone-dysplasia-with-distinctive-clavicles-and-angel-shaped-phalanges
#19
Deborah Krakow, Daniel H Cohn, William R Wilcox, Grace J Noh, Leslie J Raffel, Anna Sarukhanov, Margarita H Ivanova, Moise Danielpour, Dorothy K Grange, Alison M Elliott, Jonathan A Bernstein, David L Rimoin, Amy E Merrill, Ralph S Lachman
Bent Bone Dysplasia-FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individuals with three longer-term survivors. The prenatal phenotype included stillbirth, bending of the femora, and a high incidence of polyhydramnios, prematurity, and perinatal death in three of 11 patients in the series. The survivors presented with characteristic radiographic findings that were observed among those with lethality, including bent bones, distinctive (moustache-shaped) small clavicles, angel-shaped metacarpals and phalanges, poor mineralization of the calvarium, and craniosynostosis...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27219238/surgical-management-of-polyostotic-craniofacial-fibrous-dysplasia-long-term-outcomes-and-predictors-for-postoperative-regrowth
#20
Alison M Boyce, Andrea Burke, Carolee Cutler Peck, Craig R DuFresne, Janice S Lee, Michael T Collins
BACKGROUND: The mainstay of treatment for craniofacial fibrous dysplasia is surgical; however, optimal indications and techniques are poorly understood, particularly in polyostotic disease and McCune-Albright syndrome. This study investigated surgical indications and risk factors for recurrence in a large cohort. METHODS: One hundred thirty-three craniofacial fibrous dysplasia subjects in a natural history study were evaluated. Radiographic studies, operative reports, and clinical records were reviewed...
June 2016: Plastic and Reconstructive Surgery
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