We conducted a 20‐year prospective review of 41 pediatric patients with a diagnosis of
hypomelanosis of Ito. No evidence pointed to hereditary transmission of the disease …

BACKGROUND: Microtia is a malformation of the ear with extreme variability of expression.
It is generally seen as an isolated malformation. However, some authors consider it to be a …

Background The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of
facial development, characterised by bitemporal or preauricular scar-like defects, the former …

Techniques such as equilibrium (DC) and dynamic (AC) magnetic measurements have
been used to determine the anisotropy constant of a variety of magnetic nanoparticles …

Background The human genome presents variation at distinct levels, copy number variants
(CNVs) are DNA segments of variable lengths that range from several base pairs to …

Abstract 10 cases of erythrokeratodermia progressiva symmetrica are described; 6 were
familial, with autosomal-dominant inheritance. The disease started in early childhood …

Down syndrome (DS) resulting from free trisomy 21 (FT21) has been largely associated with
advanced maternal age. However, approximately 60% of FT21 cases are born to young …

Idiopathic osteolysis denotes a group of ran; bone disorders differentiated on the basis of
clinical, radiological, and geneti; criteria. Idiopathic multiccniric ostco‐lysis (IMO) is one form …

Encephalocraniocut aneous lipomatosis: An uncommon neurocutaneous syndrome Page 1
Encephalocraniocut aneous lipomatosis: An uncommon neurocutaneous syndrome Dolores …

This article presents a case report of two sisters, similarly affected with atrichia, papular
lesions and also with mental retardation. The patients were born with hair on the scalp …