MILLER-DIEKER SYNDROME: REPORT OF A CASE

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BOZORGMEHR BITA; KARIMINEJAD ROXANA; SEYYED HASSAN TONEKABONI; AFROOZAN FARIBA; KARIMINEJAD ARIANA

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Journal: GENETICS IN THE 3RD MILLENNIUM Year:2011 | Volume:9 | Issue:2 Page(s): 2432-2434

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Title

MILLER-DIEKER SYNDROME: REPORT OF A CASE

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Keywords

MILLER-DIEKER SYNDROMEQ2

PROFOUND NEURODEVELOPMENTAL DELAYQ2

LISSENCEPHALYQ2

17P13.3 DELETIONQ2

Abstract

MILLER-DIEKER SYNDROME is one of reasons of profound neuro-developmental delay with LISSENCEPHALY. A contiguous gene deletion in 17p13.3 is documented. It is characterized by microcephaly, bitemporal narrowing, a small nose with anteverted nostrils, a prominent upper lip, micrognathia, low set ears, hypotonia, seizures, brain malformation, LISSENCEPHALY and profound mental retardation. We report a two-year-old boy with microcephaly, profound mental retardation, bitemporal narrowing, low set ears and LISSENCEPHALY. CGH array documented the disease.

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APA: Copy

BOZORGMEHR, BITA, KARIMINEJAD, ROXANA, SEYYED HASSAN, TONEKABONI, AFROOZAN, FARIBA, & KARIMINEJAD, ARIANA. (2011). MILLER-DIEKER SYNDROME: REPORT OF A CASE. GENETICS IN THE 3RD MILLENNIUM, 9(2), 2432-2434. SID. https://sid.ir/paper/117235/en

Vancouver: Copy

BOZORGMEHR BITA, KARIMINEJAD ROXANA, SEYYED HASSAN TONEKABONI, AFROOZAN FARIBA, KARIMINEJAD ARIANA. MILLER-DIEKER SYNDROME: REPORT OF A CASE. GENETICS IN THE 3RD MILLENNIUM[Internet]. 2011;9(2):2432-2434. Available from: https://sid.ir/paper/117235/en

IEEE: Copy

BITA BOZORGMEHR, ROXANA KARIMINEJAD, TONEKABONI SEYYED HASSAN, FARIBA AFROOZAN, and ARIANA KARIMINEJAD, “MILLER-DIEKER SYNDROME: REPORT OF A CASE,” GENETICS IN THE 3RD MILLENNIUM, vol. 9, no. 2, pp. 2432–2434, 2011, [Online]. Available: https://sid.ir/paper/117235/en

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