About 18 results

ALLMedicine™ Ablepharon Macrostomia Syndrome Center

Research & Reviews  7 results

A case of ablepharon macrostomia syndrome requiring multidisciplinary care.
Clinical & Experimental Optometry; Alexopoulos D, Matchinski TL

Mar 11th, 2021 - A case of ablepharon macrostomia syndrome requiring multidisciplinary care.|2021|Alexopoulos D,Matchinski TL,|

Ablepharon Macrostomia Syndrome: Rib Cartilage and Fat Grafting for Lower Lid Reconstru...
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...

Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome.
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 ...

Ablepharon macrostomia syndrome

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...

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barb...
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...

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