| 词条 | Miller syndrome |
| 释义 |
| synonyms = Mandibulfacial dysostosis with postaxial limb anomalies | name = | image = Autosomal recessive - en.svg | alt = | caption = This condition is inherited in an autosomal recessive manner. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Miller syndrome is a genetic condition also known as the Genee–Wiedemann syndrome, Wildervanck–Smith syndrome, or postaxial acrofacial dystosis. The incidence of this condition is not known, but it is considered extremely rare. It is due to a mutation in the DHODH gene. Nothing is known of its pathogenesis. PresentationThe syndrome consists of severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples. Additional features of the syndrome include downward-slanting palpebral fissures, malar hypoplasia, malformed ears, and a broad nasal ridge. Other features include supernumerary vertebrae and other vertebral segmentation and rib defects, heart defects (patent ductus arteriosus, ventricular septal defect and Ostium primum atrial septal defect), lung disease from chronic infection, single umbilical artery, absence of the hemidiaphragm, hypoplasia of the femora, ossification defects of the ischium and pubis, bilobed tongue, lung hypoplasia, and renal reflux. CauseThe gene responsible for this disorder is DHODH[1][2] located at chromosome 16q22. This gene encodes an enzyme – dihydroorotate dehydrogenase – which catalyses the ubiquinone-mediated oxidation of dihydroorotate to orotate, the fourth enzymatic step in de novo pyrimidine biosynthesis. The protein is normally located on the outer surface of the inner mitochondrial membrane. GeneticsA mutation in this gene was reported by Morgan in 1910 in the fruit fly Drosophila melanogaster. In the fly this mutation is characterized by wing anomalies, defective oogenesis, and malformed posterior legs.[3] In humans Miller syndrome is due to recessive mutation in the DHODH gene.[1] DiagnosisDifferential diagnosisThe differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis (preaxial cranial dysostosis). Other types of axial cranial dysostosis included the Kelly, Reynolds, Arens (Tel Aviv), Rodríguez (Madrid), Richieri-Costa and Patterson-Stevenson-Fontaine forms. Treatment{{Empty section|date=November 2017}}HistoryThis condition was first described in 1969 by Genée, who assumed the condition to be an extreme form of Treacher–Collins syndrome (dysostosis mandibulofacialis).[4] Wiedemann in 1975 described it as a separate entity.[5] Further cases were reported by Wildervanck in 1975[6] and by Miller et al in 1979[7] The syndrome was named the Genée-Wiedemann syndrome in 1987.[8] EponymGenee–Wiedemann syndrome is named after two German physicians: Ekkart Genee (1936–), and his mentor {{ill|Hans-Rudolf Wiedemann|de}} (1915–2006). References1. ^1 {{cite journal | vauthors = Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ | title = Exome sequencing identifies the cause of a mendelian disorder | journal = Nature Genetics | volume = 42 | issue = 1 | pages = 30–5 | date = January 2010 | pmid = 19915526 | pmc = 2847889 | doi = 10.1038/ng.499 }} 2. ^{{cite journal | vauthors = Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ | title = Analysis of genetic inheritance in a family quartet by whole-genome sequencing | journal = Science | volume = 328 | issue = 5978 | pages = 636–9 | date = April 2010 | pmid = 20220176 | pmc = 3037280 | doi = 10.1126/science.1186802 }} 3. ^{{cite journal | vauthors = Morgan TH | title = Sex limited inheritance in drosophila | journal = Science | volume = 32 | issue = 812 | pages = 120–2 | date = July 1910 | pmid = 17759620 | doi = 10.1126/science.32.812.120 }} 4. ^{{cite journal | vauthors = Genée E | date = 1969 | title = Une forme de dysostose mandibulo-faciale | trans-title = A form of mandibulo-facial dysostosis | language= French | journal = J. De Génét. Humaine | volume = 17 | pages = 45–52 }} 5. ^{{cite journal | vauthors = Wiedemann HR | title = Missbildungs-Retardierungs-Syndrom mit Fehlen des 5. Strahls an Händen und Füssen, Gaumenspalte, dysplastischen Ohren und Augenlidern und radioulnarer Synostose | trans-title = Malformation retardation syndrome with absence of 5th ray on hands and feet, cleft palate, dysplastic ears and eyelids, and radioactive synostosis | language = German | journal = Klin Padiatr. | date = 1973 | volume = 185 | issue = 3 | pages = 181–6 | pmid = 4795571 }} 6. ^{{cite journal | vauthors = Wildervanck LS | year = 1975 | title = Case report 28. | journal = Syndrome Identification | volume = 3 | issue = 1 | pages = 1–13 }} 7. ^{{cite journal | vauthors = Miller M, Fineman R, Smith DW | title = Postaxial acrofacial dysostosis syndrome | journal = The Journal of Pediatrics | volume = 95 | issue = 6 | pages = 970–5 | date = December 1979 | pmid = 501501 | doi = 10.1016/S0022-3476(79)80285-1}} 8. ^{{cite journal | vauthors = Opitz JM, Stickler GB | title = The Genée-Wiedemann syndrome, an acrofacial dysostosis--further observation | journal = American Journal of Medical Genetics | volume = 27 | issue = 4 | pages = 971–5 | date = August 1987 | pmid = 3425606 | doi = 10.1002/ajmg.1320270427 }} External links{{Medical resources| DiseasesDB = | ICD10 = Q75.4 | ICD9 = | ICDO = | OMIM = 263750 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = 246 }}{{Inborn errors of purine-pyrimidine metabolism}} 4 : Inborn errors of purine-pyrimidine metabolism|Syndromes affecting the eyes|Syndromes with cleft lip and/or palate|Rare syndromes |
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