Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome
نویسندگان
چکیده
منابع مشابه
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...
متن کاملA 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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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2019
ISSN: 2330-1619,2330-1619
DOI: 10.1002/mdc3.12835