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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/02/20 01:34:21」(JST)

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Micrognathism (also Micrognathia or snoffiness) is a condition where the jaw is undersized. It is also sometimes called "Mandibular hypoplasia".^{[citation needed]} It is common in infants,^{[citation needed]} but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnormal tooth alignment and in severe cases can hamper feeding (Hong). It can also, both in adults and children, make intubation difficult, either during anesthesia or in emergency situations.

Causes

While not always pathological, it can present as a birth defect in multiple syndromes including:

Bloom syndrome
Coffin–Lowry syndrome
congenital rubella
Cri du chat syndrome
DiGeorge's Syndrome
Ehlers-Danlos Syndrome
fetal alcohol syndrome
Hallermann-Streiff syndrome
Hemifacial microsomia (as part of Goldenhar Syndrome)
Juvenile idiopathic arthritis
Marfan syndrome
Noonan syndrome
Pierre Robin syndrome
Prader-Willi syndrome
Progeria
Russell-Silver syndrome
Seckel syndrome
Smith-Lemli-Opitz syndrome
Treacher Collins syndrome
Trisomy 13 (Patau syndrome)
Trisomy 18 (Edwards syndrome)
Wolf–Hirschhorn syndrome
X0 syndrome (Turner syndrome)

Diagnosis

It can be detected by the naked eye as well as dental or skull X-Ray testing.^{[citation needed]}

References

Hong, P; Brake, MK; Cavanagh, JP; Bezuhly, M; Magit, AE (2012). "Feeding and mandibular distraction osteogenesis in children with Pierre Robin sequence: A case series of functional outcomes". Int J Pediatr Otorhinolaryngol 76: 414–418.
"Micrognathia". Medline Plus. 12 May 2009. Retrieved 21 May 2011.

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5. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities

English Journal

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

Tooley M1, Lynch D2, Bernier F2, Parboosingh J2, Bhoj E3, Zackai E3, Calder A4, Itasaki N5, Wakeling E6, Scott R7, Lees M7, Clayton-Smith J8, Blyth M9, Morton J10, Shears D11, Kini U11, Homfray T12, Clarke A13, Barnicoat A7, Wallis C14, Hewitson R14, Offiah A15, Saunders M16, Langton-Hewer S17, Hilliard T17, Davis P18, Smithson S1.
American journal of medical genetics. Part A.Am J Med Genet A.2016 May;170(5):1115-26. doi: 10.1002/ajmg.a.37587. Epub 2016 Mar 12.
Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We des
PMID 26971886

Congenital malformations and other reproductive losses in goats due to poisoning by Poincianella pyramidalis (Tul.) L.P. Queiroz (=Caesalpinia pyramidalis Tul.).

Santos Dos Reis SD1, de Oliveira RS1, Correia Marcelino SA1, Silva Almeida E Macêdo JT2, Riet-Correa F3, da Anunciação Pimentel L1, Ocampos Pedroso PM4.
Toxicon : official journal of the International Society on Toxinology.Toxicon.2016 Apr 26;118:91-94. doi: 10.1016/j.toxicon.2016.04.043. [Epub ahead of print]
In the semiarid region of Brazil, in areas with vegetation composed mainly of Poincianella pyramidalis, several cases of congenital malformation and reproductive losses were observed in goats and sheep from 2012 to 2014. To determine the teratogenic effect of P. pyramidalis, two groups of eight goa
PMID 27125469

Autosomal recessive mutations in THOC6 cause intellectual disability: Syndrome delineation requiring forward and reverse phenotyping.

Amos JS1, Huang L2, Thevenon J3,4, Kariminedjad A5, Beaulieu CL2, Masurel-Paulet A3,4, Najmabadi H5,6, Fattahi Z5,6, Beheshtian M5,6, Tonekaboni SH7, Tang S8, Helbig KL8, Alcaraz W8, Rivière JB3,4, Faivre L3,4, Innes AM9, Lebel RR1, Boycott KM2.
Clinical genetics.Clin Genet.2016 Apr 22. doi: 10.1111/cge.12793. [Epub ahead of print]
THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense mutation in THOC6 in the Hutterite population was
PMID 27102954