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New Insights on Genetic Features of Neu-Laxova Syndrome

مجله علمی ناباروری ایران، دوره: 8، شماره: 1
Year: 1396
COI: JR_IRJN-8-1_008
Language: EnglishView: 151
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Elaheh Amini - Breastfeeding Research Center, Tehran University of Medical Sciences, Tehran, Iran
Negin Azadi - Maternal, Fetal and Neonatal Research Center, Tehran University of Medical Sciences, Tehran, Iran
Mahdi Sheikh - Maternal, Fetal and Neonatal Research Center, Tehran University of Medical Sciences, Tehran, Iran


ABSTRACTBackground: This study aimed to present a rare case of Neu-Laxova syndrome (NLS) and review the newly revealed genetic features of the disease in hopes to find a way for early interventions.Case report: Female newborn with NLS was born at 30 weeks of gestation to consanguineous parents. The last prenatal ultrasound imaging revealed severe intrauterine growth restriction and microcephaly without polyhydramnios. The newborn had significant dysmorphic features, such as microcephaly, slanted forehead, protruding eye, flattened nose, micrognathia, cleft palate, ichthyosis skin, edematous hands and feet and flexion contractures of the joints. Moreover, she had the usual female karyotype. Results of plain x-ray imaging demonstrated microcephaly, kyphosis, and arthrogryposis.Conclusion: According to the results of this study, NLS is a severe serine deficiency disorder. Given the confirmation of the possibility of diagnosing NLS early in gestation by several studies, it is suggested that early maternal supplementation with serine and glycine be used in families at risk of this disease or those who are diagnosed in early gestation with NLS in order to decrease the severity and fatality of the disease.


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This Paper COI Code is JR_IRJN-8-1_008. Also You can use the following address to link to this article. This link is permanent and is used as an article registration confirmation in the Civilica reference:

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Amini, Elaheh and Azadi, Negin and Sheikh, Mahdi,1396,New Insights on Genetic Features of Neu-Laxova Syndrome,

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  • Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, ...
  • serine metabolism, is caused by mutations in PHGDH. Am J ...
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  • Vincent JB, Jamil T, Rafiq MA, Anwar Z, Ayaz M, ...
  • Horn D, Muller D, Thiele H, Kunze J. Extreme microcephaly, ...
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Type of center: علوم پزشکی
Paper count: 9,447
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COI stands for "CIVILICA Object Identifier". COI is the unique code assigned to articles of Iranian conferences and journals when indexing on the CIVILICA citation database.

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