Ring Chromosome 14 Manifesting as Mild Clinical Features without Facial Sysmorphsim
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The characteristic features of ring chromosome 14 syndrome are microcephaly, facial dysmorphism, ocular abnormalities, psychomotor retardation, and drug- resistant epilepsy. Here, we report the case of a 2-year-old girl, diagnosed with ring 14 syndrome with mild clinical features. The child had microcephaly without facial dysmorphism, a slight language delay, and well-controlled seizures with a favorable progress. Her first seizure occurred at the age of 4 months and she has been seizure- free for 12 months since turning 3 years old. She exhibited only a mild language delay, which is still improving. It is important to note that ring chromosome 14 may manifest as early onset seizures with mild psychomotor delay, but without facial dysmorphism. These patients may follow a favorable clinical course.
Abstract
The characteristic features of ring chromosome 14 syndrome are microcephaly, facial dysmorphism, ocular abnormalities, psychomotor retardation, and drug- resistant epilepsy. Here, we report the case of a 2-year-old girl, diagnosed with ring 14 syndrome with mild clinical features. The child had microcephaly without facial dysmorphism, a slight language delay, and well-controlled seizures with a favorable progress. Her first seizure occurred at the age of 4 months and she has been seizure- free for 12 months since turning 3 years old. She exhibited only a mild language delay, which is still improving. It is important to note that ring chromosome 14 may manifest as early onset seizures with mild psychomotor delay, but without facial dysmorphism. These patients may follow a favorable clinical course.
참고문헌 (14)
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