ALLMedicine™ Ablepharon Macrostomia Syndrome Center
Research & Reviews 7 results
Clinical & Experimental Optometry; Alexopoulos D, Matchinski TL
Mar 11th, 2021 - A case of ablepharon macrostomia syndrome requiring multidisciplinary care.|2021|Alexopoulos D,Matchinski TL,|
The Journal of Craniofacial Surgery; Kurnik NM, Leach GA et. al.
Oct 16th, 2020 - Ablepharon macrostomia syndrome (AMS) is a rare condition with fewer than 20 cases being reported in the literature. Features of AMS include ablepharon, hypertelorism, macrostomia, dysplastic ears, sparse body hair, and ambiguous genitalia. The mo...
BMC Pulmonary Medicine; Ciriaco P, Carretta A et. al.
Aug 30th, 2019 - Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in ...
Mar 6th, 2017 - Ablepharon macrostomia syndrome is genetic disorder characterized by absent eyelids (ablepharon) and very large mouth (macrostomia). Other common signs and symptoms include abnormal external ears, fusion (syndactyly) of the hands and feet, skin fi...
American Journal of Human Genetics; Marchegiani S, Davis T et. al.
Jun 30th, 2015 - Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, w...