..............................................................................................................................xiv Introduction ............................................................................................................................1 What is Nephrotic Syndrome? .............................................................................................1 Patho...

OBJECTIVES/HYPOTHESIS The aim of this study was to 1) determine the prevalence of DFNB1 in a cohort of children with prelingual nonsyndromic sensorineural hearing loss (HL), 2) study phenotype/genotype correlations, and 3) establish guidelines for genetic counseling of DFNB1. STUDY DESIGN Prospective cohort study. METHODS A total of 119 unrelated children (107 sporadic and 12 familial cases...

The keloid scar is a cutaneous mass characterized by nodular fibroblastic proliferation of dermis and a predilection for distinctive anatomical locations. However, keloid extension to neighbouring tissue as a nonsyndromic entity has not been described. In the present report, a case involving a 48-year-old woman with extensive bilateral keloids of the ear lobules and neck following ear piercing ...

We report two infants presenting with unilateral congenital facial palsy since birth. Magnetic resonance imaging (MRI) in both the cases revealed complete unilateral aplasia of facial nerve. To our knowledge, this is the first reported MR depiction of nonsyndromic isolated facial nerve aplasia. Imaging features and the pertinent anatomy is discussed along with a brief review of literature.

Congenital cleft-Lip and cleft palate has been the subject of many genetic studies, but until recently there has been no consensus as to their modes of inheritance. In fact, claims have been made for just about every genetic mechanism one can think of. Recently, however, evidence has been accumulating that favors a multifactorial basis for these malformations. Cleft lip and palate (CLP) are bir...