microcephaly and intracranial calcification in an iranian family
نویسندگان
چکیده
first cousin parents with two children with microcephaly and periventricular calcification were referred to our genetic counseling center. no other particular dysmorphic features were seen. intrauterine cmv infection was considered for the first child. however, the condition recurred in the second child. in this report, the importance of congenital cmv infection and its differentiation from microcephaly – calcification syndrome is discussed.
منابع مشابه
A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.
Primary microcephaly (MCPH) is a genetic disorder in which affected individuals present with a head circumference 3 standard deviations (SDs) below the age- and sex-related mean and is accompanied by mental retardation without further associated malformations. Here we report a patient with sporadic MCPH from Northwest of Iran who was investigated for MCPH1 locus. Clinical examination and karyot...
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عنوان ژورنال:
genetics in the 3rd millenniumجلد ۷، شماره ۳، صفحات ۱۷۷۲-۱۷۷۳
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