Clinical Variant of Ablepharon Macrostomia Syndrome

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scar-like' facial lesions. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns. Although the genetic defects causing FFDD1 and FFDD2 remain unknown, recent ...

A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting

We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and genital abnormaliti...

BAG: A Designer-Oriented Framework for the Development of AMS Circuit Generators

BAG: A Designer-Oriented Framework for the Development of AMS Circuit Generators

HULIS identification using NMR and AMS factor analysis

Introduction Conclusions References

C-AMS as a tool for archaeological investigation: Implications for Human Settlement in South America