New Insights on Genetic Features of Neu-Laxova Syndrome
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Abstract:
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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new insights on genetic features of neu-laxova syndrome
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...
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A newborn female with intrauterine growth retardation, bilateral cleft lip and palate, absent external nares and eyelids, low set ears, short contracted limbs, webbed digits, intestinal malrotation, and unilateral renal agenesis is reported. These multiple malformations are considered part of the Neu-Laxova syndrome.
full textPrenatal diagnosis and postmortem findings of Neu-laxova syndrome.
Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, a...
full textPrenatal diagnosis of Neu-Laxova syndrome: a case report
BACKGROUND: Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS) diagnosed prenatally by ultrasound examination. CASE PRESENTATION: A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical histor...
full textNeu-Laxova Syndrome: An Unusual Association with Kyphosis.
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth re...
full textA Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?
Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10...
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Journal title
volume 8 issue 1
pages 40- 42
publication date 2017-03-01
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