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American Journal of Obstetrics and... Nov 2019
Topics: Delivery, Obstetric; Diagnosis, Differential; Female; Fetus; Genetic Testing; Humans; Micrognathism; Pregnancy; Prognosis; Ultrasonography, Prenatal
PubMed: 31679587
DOI: 10.1016/j.ajog.2019.08.051 -
Facial Plastic Surgery Clinics of North... Feb 2014James Sidman, MD, and Sherard A. Tatum, MD, address the following questions for discussion and debate. Is neonatal distraction osteogenesis (DO) better than lip-tongue... (Review)
Review
James Sidman, MD, and Sherard A. Tatum, MD, address the following questions for discussion and debate. Is neonatal distraction osteogenesis (DO) better than lip-tongue adhesion or tracheotomy for micrognathic airway compromise? What role does DO have in adult orthognathic surgery situations? In monobloc and Le Fort III procedures, are internal or external devices preferable? What role does DO play in craniofacial microsomia? Is endoscopic DO better than open procedures for synostosis management? How has your technique changed or evolved over the past 5 years and what has doing this technique taught you?
Topics: Adult; Craniofacial Dysostosis; Endoscopy; Goldenhar Syndrome; Humans; Infant, Newborn; Maxillary Fractures; Micrognathism; Osteogenesis, Distraction; Osteotomy, Le Fort
PubMed: 24290998
DOI: 10.1016/j.fsc.2013.09.003 -
Orphanet Journal of Rare Diseases Sep 2015Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate... (Review)
Review
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78% of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased. Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.
Topics: Abnormalities, Multiple; Congenital Microtia; Female; Growth Disorders; Humans; Male; Micrognathism; Patella; Urogenital Abnormalities
PubMed: 26381604
DOI: 10.1186/s13023-015-0322-x -
Clinics in Perinatology Dec 2018Congenital causes of airway obstruction once noted at birth are now diagnosed prenatally. The adoption of ex utero intrapartum treatment has allowed for planned airway... (Review)
Review
Congenital causes of airway obstruction once noted at birth are now diagnosed prenatally. The adoption of ex utero intrapartum treatment has allowed for planned airway stabilization on placental support, dramatically decreasing the incidence of hypoxic injury or peripartum demise related to neonatal airway obstruction. Airway access is gained either through laryngoscopy, bronchoscopy, or a surgical airway. In complete airway obstruction, primary resection of the obstructing lesion may be performed before completion of delivery. This article reviews the current and emerging methods of fetal evaluation, indications for ex utero intrapartum treatment, and provides a detailed description of the procedure and necessary personnel.
Topics: Airway Management; Airway Obstruction; Female; Fetal Diseases; Humans; Magnetic Resonance Imaging; Male; Micrognathism; Pregnancy; Pregnancy Outcome; Prenatal Care; Plastic Surgery Procedures; Respiratory System Abnormalities; Risk Assessment; Treatment Outcome; Ultrasonography, Prenatal
PubMed: 30396408
DOI: 10.1016/j.clp.2018.07.003 -
Biochemical Society Transactions Dec 2016Defects in the development of the mandible can lead to micrognathia, or small jaw, which manifests in ciliopathic conditions, such as orofaciodigital syndrome,... (Review)
Review
Defects in the development of the mandible can lead to micrognathia, or small jaw, which manifests in ciliopathic conditions, such as orofaciodigital syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome. Although micrognathia occurs frequently in human and mouse ciliopathies, it has been difficult to pinpoint the underlying cellular causes. In this mini-review, we shed light on the tissue-specific contributions to ciliary dysfunction in the development of the mandible. First, we outline the steps involved in setting up the jaw primordium and subsequent steps in the outgrowth of the mandibular skeleton. We then determine the critical tissue interactions using mice carrying a conditional mutation in the cilia gene Ofd1 Our studies highlight the usefulness of the Ofd1 mouse model and illustrate long-term possibilities for understanding the cellular and biochemical events underlying micrognathia.
Topics: Animals; Cilia; Ciliopathies; Disease Models, Animal; Humans; Mandible; Mice; Micrognathism; Mutation; Proteins
PubMed: 27913686
DOI: 10.1042/BST20160241 -
NeoReviews Nov 2023
Topics: Pregnancy; Female; Humans; Micrognathism; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 37907406
DOI: 10.1542/neo.24-11-e753 -
BMJ Case Reports Sep 2016
Topics: Angioplasty, Balloon, Coronary; Arteries; DNA Mutational Analysis; Failure to Thrive; Female; Humans; Infant; Infant, Newborn; Joint Instability; Micrognathism; Skin Diseases, Genetic; Stents; Treatment Outcome; Vascular Malformations
PubMed: 27651409
DOI: 10.1136/bcr-2016-217029 -
The New England Journal of Medicine Mar 2022
Topics: Humans; Intellectual Disability; Micrognathism; Ribs
PubMed: 35353972
DOI: 10.1056/NEJMc2117812 -
International Journal of Pediatric... May 2003The congenital anomaly of extreme microglossia is uncommon and fewer than 50 cases have been described. The microglossia has often occurred in association with limb...
The congenital anomaly of extreme microglossia is uncommon and fewer than 50 cases have been described. The microglossia has often occurred in association with limb abnormalities and, therefore, these cases have been grouped together as the hypoglossia-hypodactylia syndrome within the oromandibular-limb hypogenesis syndromes. We present five cases seen at our referral centre. Surprisingly for this number none had limb anomalies but all had marked micrognathia-Gorlin-Hall classification type 5-two requiring tracheostomy for upper airway obstruction. All required tube feeding for between 4 and 17 months. Long term follow-up is not yet available.
Topics: Airway Obstruction; Enteral Nutrition; Female; Humans; Infant, Newborn; Male; Micrognathism; Tongue; Tracheostomy
PubMed: 12697349
DOI: 10.1016/s0165-5876(03)00003-x -
Khirurgiia 2004The treatment of the temporomandibular joint ankylosis is a challenge for the oral-facial surgery. In children the ankylosis is often followed by micrognathia and... (Review)
Review
The treatment of the temporomandibular joint ankylosis is a challenge for the oral-facial surgery. In children the ankylosis is often followed by micrognathia and disturbances in the balance of the orofacial system and the whole organism and it makes the problem more serious. All the surgeons who have ever treated ankylosis, had theirs disappointments. The question about the surgical technique and when does it have to be made is still actually. Using the literature we try to represent the most useful techniques for reconstruction of the TMJ and the lower jaw in case of ankylosis and micrognathia We hope to optimize the treatment and to make the life of these patients better.
Topics: Ankylosis; Humans; Mandible; Micrognathism; Plastic Surgery Procedures; Temporomandibular Joint
PubMed: 16044874
DOI: No ID Found