A case of 18p deletion syndrome after blepharoplasty

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A case of 18p deletion syndrome after blepharoplasty

OBJECTIVE The deletion of the short arm of chromosome 18 is thought to be one of the rare chromosomal aberrations. Here, we report a case to review this disease. CASE REPORT The proband is a five-and-a-half-year-old girl who has had phenotypes manifested mainly by ptosis, broad face, broad neck with low posterior hairline, mental retardation, short stature, and other malformations. Chromosoma...

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Genetic Counselling in a Familial Deletion 18p Syndrome

Deletion of 18p syndrome is characterized by dysmorphic features, growth deficiencies, and mental retardation with a poor verbal performance. Until now, few families have been described with limited clinical description. We report transmission of deletion 18p from a mother to his son. The proband is 8 years old and has short stature, dysmorphic features, polymorphous dyslalia and moderate menta...

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A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome.

Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromoso...

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A de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report

The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...

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Blindness after cosmetic blepharoplasty: case report.

Blepharoplasty is one of the most commonly performed surgeries for rejuvenation of the periorbital region. We present a case of unilateral permanent visual loss following a bilateral lower lid cosmetic blepharoplasty with fat removal. The etiology of retrobulbar hemorrhage following blepharoplasty, treatment, and recommendations to reduce the chance of this rare but serious complication are dis...

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ژورنال

عنوان ژورنال: International Medical Case Reports Journal

سال: 2017

ISSN: 1179-142X

DOI: 10.2147/imcrj.s123938