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Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B, Mazzanti L, Roche N, Hennekam RC. De Maria B, et al. Am J Med Genet A. 2016 Aug;170(8):1989-2001. doi: 10.1002/ajmg.a.37757. Epub 2016 May 19. Am J Med Genet A. 2016. PMID: 27196381 Review.
Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. ...
Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by het …
Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report.
Hollanders K, Casteels I, Vandelanotte S, Reyniers R, Segers K, Nevens T, Mombaerts I. Hollanders K, et al. Cornea. 2018 Jul;37(7):929-932. doi: 10.1097/ICO.0000000000001563. Cornea. 2018. PMID: 29538102 Review.
PURPOSE: To report a case of ablepharon-macrostomia syndrome and surgical treatment options. METHODS: Case report and literature review. ...CONCLUSIONS: We present a rare case of a prematurely born infant with a severe phenotype of ablepharon-macros …
PURPOSE: To report a case of ablepharon-macrostomia syndrome and surgical treatment options. METHODS: Case report and l …
A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence.
Jackson IT, Shaw KE, del Pinal Matorras F. Jackson IT, et al. Br J Plast Surg. 1988 Jul;41(4):410-6. doi: 10.1016/0007-1226(88)90084-7. Br J Plast Surg. 1988. PMID: 3293678 Review.
The ablepharon macrostomia syndrome is an extremely rare congenital anomaly. ...In addition, an expanded and revised classification of the ablepharon macrostomia syndrome and related disorders is presented. ...
The ablepharon macrostomia syndrome is an extremely rare congenital anomaly. ...In addition, an expanded and revised cl …
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. Lee BH, et al. J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29. J Med Genet. 2017. PMID: 28663233 Review.
In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Barber-Say syndrome, are noted. ...
In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome …
Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?
Cesarino EJ, Pinheiro M, Freire-Maia N, Meira-Silva MC. Cesarino EJ, et al. Am J Med Genet. 1988 Oct;31(2):299-304. doi: 10.1002/ajmg.1320310207. Am J Med Genet. 1988. PMID: 3068987 Review.
We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnos …
We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, fore …