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Journals and Conferences
Congenital absence of the salivary glands and lacrimal puncta is a rare autosomal-dominant disorder with variable expressivity. Only a few instances of this condition have been reported. We present the first Brazilian observation of this syndrome and a review of the literature.
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… (More)
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,… (More)