Partial tetrasomy of chromosome 22: genetic and surgical implications for otolaryngologists.

Partial tetrasomy of chromosome 22 is a rare multiple congenital anomaly syndrome that is more commonly known as cat-eve syndrome (CES). It is caused by the duplication of a 2-million base region of chromosome 22 (22 pter --> q 11 x 2). The phenotype is extremely variable, and its clinical characteristics include a combination of craniofacial, cardiac, renal, gastrointestinal, and genito-urinary defects.

[Marcus Gunn Phenomenon: differential diagnosis of palpebral ptoses in children].

Objective: The aim of this paper is to review existing literature on the subject and to report on and discuss a case of Marcus Gunn Phenomenon.

Description: A five year-old female, otherwise a healthy patient, while still a few months old, was seen by a pediatrician who detected a disorder of the right eye, initially believed to be strabismus, at a follow-up childcare consultation. Several ophthalmologists failed to establish a precise diagnosis.