PMC4338853_01
Affected child at 18 months of age.
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A 7-year-old girl (Fig. 1), an only child who was born of a nonconsanguineous marriage and through vaginal delivery, was brought to our Medical Genetic Centre in March 2014 because of mental retardation.
PMC4338853_02
Affected child at 15 years of age.
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PMC4338853_02_gr2.jpg
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At her last visit, the patient was 15 years old (Fig. 2, Fig. 3, Fig. 4), and clinical examination revealed microcephaly (HC = 52 cm), short stature (145 cm), sleep disturbances, repetitive hand wrestling movement, rigidity of muscle hands, curved legs, irritability, loss of speech and writing and reading, sleep disturbances, strange noises, and lack of control over urinary and fecal excretion. Their son was a healthy child (Fig. 2, Fig. 3, Fig. 4).
The patient in standing position.
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PMC4338853_02_gr4.jpg
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At her last visit, the patient was 15 years old (Fig. 2, Fig. 3, Fig. 4), and clinical examination revealed microcephaly (HC = 52 cm), short stature (145 cm), sleep disturbances, repetitive hand wrestling movement, rigidity of muscle hands, curved legs, irritability, loss of speech and writing and reading, sleep disturbances, strange noises, and lack of control over urinary and fecal excretion. Their son was a healthy child (Fig. 2, Fig. 3, Fig. 4).