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Clinical Genetics Jun 2013The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of... (Review)
Review
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 shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from which the eyelashes medial to the defect may be absent, hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associated with hearing loss. These facial deformities are associated with limb anomalies in the AFDs. All MFDs present with the typical craniofacial phenotype, but some have additional features that help to distinguish them clinically: intellectual disability, microcephaly, chest deformity, ptosis, cleft lip/palate, macroblepharon, or blepharophimosis. The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD subgroups. Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date.
Topics: Abnormalities, Multiple; Craniofacial Abnormalities; Genetic Predisposition to Disease; Humans; Mandibulofacial Dysostosis; Phenotype; Syndrome
PubMed: 23565775
DOI: 10.1111/cge.12123 -
Wiley Interdisciplinary Reviews.... May 2017Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial... (Review)
Review
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of the head and face. In this review, we discuss advances in our understanding of the pathogenesis of a specific array of craniofacial anomalies, termed facial dysostoses, which can be subdivided into mandibulofacial dysostosis, which present with craniofacial defects only, and acrofacial dysostosis, which encompasses both craniofacial and limb anomalies. In particular, we focus on Treacher Collins syndrome, Acrofacial Dysostosis-Cincinnati Type as well as Nager and Miller syndromes, and animal models that provide new insights into the molecular and cellular basis of these congenital syndromes. We emphasize the etiologic and pathogenetic similarities between these birth defects, specifically their unique deficiencies in global processes including ribosome biogenesis, DNA damage repair, and pre-mRNA splicing, all of which affect neural crest cell development and result in similar tissue-specific defects. WIREs Dev Biol 2017, 6:e263. doi: 10.1002/wdev.263 For further resources related to this article, please visit the WIREs website.
Topics: Animals; Humans; Mandibulofacial Dysostosis; Neural Crest; Syndrome
PubMed: 28186364
DOI: 10.1002/wdev.263 -
Journal of the American Veterinary... Dec 2004
Review
Topics: Animals; Cat Diseases; Cats; Dog Diseases; Dogs; Dysostoses; Extremities; Osteogenesis
PubMed: 15626218
DOI: 10.2460/javma.2004.225.1685 -
Plastic and Reconstructive Surgery Dec 2002After studying this article, the participant should be able to: 1. Understand the etiology and pathogenesis of facial dysostosis syndromes. 2. Recognize and classify... (Review)
Review
After studying this article, the participant should be able to: 1. Understand the etiology and pathogenesis of facial dysostosis syndromes. 2. Recognize and classify common facial dysostoses. 3. Understand the different management plans for the reconstruction of facial dysostoses. The wide spectrum of craniofacial malformations makes classification difficult. A simple classification system allows an overview of the current understanding of the etiology, assessment, and treatment of the most frequently encountered craniofacial anomalies. Facial dysostoses are reviewed on the basis of their diverse etiology, pathogenesis, anatomy, and treatment. Conditions discussed include craniofacial microsomia, Goldenhar syndrome, Treacher Collins syndrome, Nager syndrome, Binder syndrome, and Pierre Robin sequence. Approaches to the surgical management of these conditions are reviewed.
Topics: Child; Craniofacial Dysostosis; Humans; Syndrome
PubMed: 12447054
DOI: 10.1097/01.PRS.0000033869.10382.91 -
American Journal of Medical Genetics Mar 1995We describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager... (Review)
Review
We describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager syndrome is characterized by preaxial limb defects, whereas the Genée-Wiedemann syndrome (= Miller syndrome) by postaxial limb defects. We briefly review the established acrofacial dysostoses (AFD) and discuss the position of our case in the current classification.
Topics: Abnormalities, Multiple; Arm; Face; Female; Fetal Death; Genes, Dominant; Hand Deformities, Congenital; Humans; Mandibulofacial Dysostosis; Radiography
PubMed: 7625437
DOI: 10.1002/ajmg.1320560208 -
Hormone and Metabolic Research =... Sep 2012Acrodysostosis refers to a group of rare skeletal dysplasias that share in common characteristic clinical and radiological features including brachydactyly, facial... (Review)
Review
Acrodysostosis refers to a group of rare skeletal dysplasias that share in common characteristic clinical and radiological features including brachydactyly, facial dysostosis, and nasal hypoplasia. In the past, the term acrodysostosis has been used to describe patients with heterogeneous phenotypes, including, in some cases, patients that today would be given alternative diagnoses. The recent finding that mutations impairing the cAMP binding to PRKAR1A are associated with "typical" acrodysostosis and hormonal resistance initiates the era where this group of disorders can be categorized on a genetic basis. In this review, we will first discuss the clinical, radiologic, and metabolic features of acrodysostosis, emphasizing evidence that several forms of the disease are likely to exist. Second, we will describe recent results explaining the pathogenesis of acrodysostosis with hormonal resistance (ADOHR). Finally, we will discuss the similarities and differences observed comparing patients with ADOHR and other diseases resulting from defects in the PTHR1 signaling pathway, in particular, pseudohypoparathyroidism type 1a and pseudopseudohypoparathyroidism.
Topics: Animals; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Dysostoses; GTP-Binding Protein alpha Subunits, Gs; Humans; Intellectual Disability; Mutation; Osteochondrodysplasias; Phenotype; Radiography; Signal Transduction
PubMed: 22815067
DOI: 10.1055/s-0032-1316330 -
Facial Plastic Surgery Clinics of North... Nov 2016Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such... (Review)
Review
Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. More than 150 syndromes are associated with craniosynostosis. This article describes some commonalities and distinguishing features and management of syndromic synostosis. Also addressed is secondary synostosis, which is often found in syndromic children with problems related to microcephaly, hydrocephalus, or shunt-induced craniosynostosis, although pathophysiologically and genetically different. The importance of obtaining a thorough history and a complete physical and examination is highlighted. Adjuvant testing and multidisciplinary management are discussed.
Topics: Craniofacial Dysostosis; Craniosynostoses; Humans; Osteogenesis, Distraction; Syndrome
PubMed: 27712819
DOI: 10.1016/j.fsc.2016.06.008 -
Plastic and Reconstructive Surgery Aug 2019Simultaneously advancing and medializing the orbital segments in a stable bone bloc constitutes a major advancement in craniofacial surgery. Monobloc bipartition enables...
Simultaneously advancing and medializing the orbital segments in a stable bone bloc constitutes a major advancement in craniofacial surgery. Monobloc bipartition enables destigmatization of the syndromic face by correcting the abnormal orbital axis and interorbital distance. The authors stratified this complex surgical approach into five major steps to facilitate a holistic understanding of the surgical sequence. The rationale for latency and activation periods and the advantages and disadvantages of this technique are described.
Topics: Craniofacial Dysostosis; Craniotomy; Face; Humans; Hypertelorism; Osteogenesis, Distraction; Osteotomy; Postoperative Complications
PubMed: 31348356
DOI: 10.1097/PRS.0000000000005859 -
American Journal of Medical Genetics Nov 1995
Review
Topics: Abnormalities, Multiple; Diagnosis, Differential; Dysostoses; Genes, Dominant; Genes, Recessive; Humans; Infant, Newborn; Morphogenesis; Orofaciodigital Syndromes; Phenotype; Syndrome
PubMed: 8599363
DOI: 10.1002/ajmg.1320590317 -
Pediatric Blood & Cancer Dec 2005Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. SDS is also... (Review)
Review
Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. SDS is also characterized by a risk of myelodysplasia and leukemia in up to one third of the patients. Over the last 5 years, major advances have been made in understanding the bone marrow phenotype. The gene associated with the disease, SBDS, has recently been identified. Herein we provide an update on the clinical features, the hematopoietic defects, and the genetics of the disease as they are currently understood. We also review the diagnostic and therapeutic approaches to the hematological complications in the syndrome.
Topics: Bone Marrow Diseases; Child; Child, Preschool; Dysostoses; Exocrine Pancreatic Insufficiency; Female; Hematopoiesis; Humans; Male; Proteins; Syndrome
PubMed: 16047374
DOI: 10.1002/pbc.20478