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Antley-Bixler syndrome(ABS)

MedGen UID:
1714404
•Concept ID:
C5234850
•
Disease or Syndrome
Synonym: ABS
SNOMED CT: Antley-Bixler syndrome (62964007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: POR, FGFR2
 
Monarch Initiative: MONDO:0008803
Orphanet: ORPHA83

Definition

A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. [from ORDO]

Professional guidelines

PubMed

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Fan L, Ren X, Song Y, Su C, Fu J, Gong C
Orphanet J Rare Dis 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. PMID: 31888681Free PMC Article

Recent clinical studies

Etiology

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Fan L, Ren X, Song Y, Su C, Fu J, Gong C
Orphanet J Rare Dis 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. PMID: 31888681Free PMC Article
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Rivière JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M, Genevieve D
Genet Med 2018 Feb;20(2):269-274. Epub 2017 Aug 3 doi: 10.1038/gim.2017.109. PMID: 28771243
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Anesthetic risks associated with Antley-Bixler syndrome.
Gençay I, Vargel I, Büyükkoçak U, Yazc I, Apan A
J Craniofac Surg 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. PMID: 23348324
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD, Herman GE
J Lipid Res 2011 Jan;52(1):6-34. Epub 2010 Oct 7 doi: 10.1194/jlr.R009548. PMID: 20929975Free PMC Article

Diagnosis

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.
Morton JE, Frentz S, Morgan T, Sutherland-Smith AJ, Robertson SP
Am J Med Genet A 2016 Oct;170(10):2706-10. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37804. PMID: 27410456
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
Oldani E, Garel C, Bucourt M, Carbillon L
Am J Case Rep 2015 Dec 16;16:882-5. doi: 10.12659/ajcr.895526. PMID: 26670660Free PMC Article
Antley-Bixler syndrome, description of two new cases and review of the literature.
Lee HJ, Cho DY, Tsai FJ, Shen WC
Pediatr Neurosurg 2001 Jan;34(1):33-9. doi: 10.1159/000055989. PMID: 11275784
Musculoskeletal manifestations of the Antley-Bixler syndrome.
Rumball KM, Pang E, Letts RM
J Pediatr Orthop B 1999 Apr;8(2):139-43. PMID: 10218180
Antley-Bixler syndrome. Description of two new cases and a review of the literature.
Bottero L, Cinalli G, Labrune P, Lajeunie E, Renier D
Childs Nerv Syst 1997 May;13(5):275-80; discussion 281. doi: 10.1007/s003810050082. PMID: 9224917

Therapy

Anesthetic risks associated with Antley-Bixler syndrome.
Gençay I, Vargel I, Büyükkoçak U, Yazc I, Apan A
J Craniofac Surg 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. PMID: 23348324
Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.
Horvat S, McWhir J, Rozman D
Drug Metab Rev 2011 Feb;43(1):69-90. doi: 10.3109/03602532.2010.540580. PMID: 21247357
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Adachi M, Asakura Y, Tachibana K, Shackleton C
Pediatr Int 2004 Oct;46(5):583-9. doi: 10.1111/j.1442-200x.2004.01960.x. PMID: 15491389
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Adès L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM
J Med Genet 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26. PMID: 10633130Free PMC Article
Fluconazole-induced congenital anomalies in three infants.
Pursley TJ, Blomquist IK, Abraham J, Andersen HF, Bartley JA
Clin Infect Dis 1996 Feb;22(2):336-40. doi: 10.1093/clinids/22.2.336. PMID: 8838193

Prognosis

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
Oldani E, Garel C, Bucourt M, Carbillon L
Am J Case Rep 2015 Dec 16;16:882-5. doi: 10.12659/ajcr.895526. PMID: 26670660Free PMC Article
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Musculoskeletal manifestations of the Antley-Bixler syndrome.
Rumball KM, Pang E, Letts RM
J Pediatr Orthop B 1999 Apr;8(2):139-43. PMID: 10218180
Antley-Bixler syndrome. Description of two new cases and a review of the literature.
Bottero L, Cinalli G, Labrune P, Lajeunie E, Renier D
Childs Nerv Syst 1997 May;13(5):275-80; discussion 281. doi: 10.1007/s003810050082. PMID: 9224917
Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.
Escobar LF, Bixler D, Sadove M, Bull MJ
Am J Med Genet 1988 Apr;29(4):829-36. doi: 10.1002/ajmg.1320290412. PMID: 3041834

Clinical prediction guides

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.
Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G
Arq Bras Endocrinol Metabol 2012 Nov;56(8):578-85. doi: 10.1590/s0004-27302012000800020. PMID: 23295302
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system.
Moutinho D, Marohnic CC, Panda SP, Rueff J, Masters BS, Kranendonk M
Drug Metab Dispos 2012 Apr;40(4):754-60. Epub 2012 Jan 17 doi: 10.1124/dmd.111.042820. PMID: 22252407Free PMC Article
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Adachi M, Asakura Y, Tachibana K, Shackleton C
Pediatr Int 2004 Oct;46(5):583-9. doi: 10.1111/j.1442-200x.2004.01960.x. PMID: 15491389
Prenatal ultrasound detection of humero-radial synostosis in a case of Antley-Bixler syndrome.
Savoldelli G, Schinzel A
Prenat Diagn 1982 Jul;2(3):219-23. doi: 10.1002/pd.1970020311. PMID: 7145849

Recent systematic reviews

P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships.
Dean B, Chrisp GL, Quartararo M, Maguire AM, Hameed S, King BR, Munns CF, Torpy DJ, Falhammar H, Rushworth RL
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz255. PMID: 31825489

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