Early second trimester prenatal diagnosis of Neu‐Laxova syndrome

Driggers, Rita W.; Isbister, S.; McShane, Cyrethia; Stone, Kristyne; Blakemore, Karin J.

doi:10.1002/pd.228

Cited by 19 publications

(11 citation statements)

References 9 publications

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“…Other features include joint contractures and skeletal anomalies, ichthyosis, edema, and dysmorphic facial features (proptosis of the eyes, hypertelorism, and micrognathia) (Acuna‐Hidalgo et al, ; Rode, Mennuti, Giardine, Zackai, & Driscoll, ; Shaheen et al, ; Wood, Mottola, Rhee, & Kuller, ). Decreased fetal activity has also been reported (Driggers, Isbister, McShane, Stone, & Blakemore, ; Manar & Asma, ). Most affected individuals are stillborn or die in the neonatal period.…”

Section: Introductionmentioning

confidence: 81%

Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

Bourque

Cloutier

Kernohan

et al. 2019

American J of Med Genetics Pt A

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Neu–Laxova syndrome (NLS) is a lethal autosomal recessive microcephaly syndrome associated with intrauterine growth restriction (IUGR) and multiple congenital anomalies. Clinical features include central nervous system malformations, joint contractures, ichthyosis, edema, and dysmorphic facial features. Biallelic pathogenic variants in either the PHGDH or PSAT1 genes have been shown to cause NLS. Using exome sequencing, we aimed to identify the underlying genetic diagnosis in three fetuses (from one family) with prenatal skin edema, severe IUGR, micrognathia, renal anomalies, and arthrogryposis and identified a homozygous c.1A>C (p.Met1?, NM_006623.3) variant in the PHGDH gene. Loss of the translation start codon is a novel genetic mechanism for the development of NLS. Prenatal diagnosis of NLS is challenging and few reports describe the fetal pathology. Fetal neuropathologic examination revealed: delayed brain development, congenital agenesis of the corticospinal tracts, and hypoplasia of the hippocampus, cerebellum and brainstem. Each pregnancy also showed increased nuchal translucency (NT) or cystic hygroma. While NLS is rare, it may be a cause of recurrent increased NT/cystic hygroma. This finding provides further support that cystic hygroma has many different genetic causes and that exome sequencing may shed light on the underlying genetic diagnoses in this group of prenatal patients.

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Section: Introductionmentioning

confidence: 81%

Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

Bourque

Cloutier

Kernohan

et al. 2019

American J of Med Genetics Pt A

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“…It is characterized by ichthyosis, edema (particularly of the hands and feet), severe IUGR, microcephaly, short neck, characteristic CNS anomalies (lissencephaly, cerebellar hypoplasia [Ejeckam et al, 1986], and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, and abnormal facial features (severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears [Neu et al, 1971; Laxova et al, 1972; Povysilova et al, 1976; Lazjuk et al, 1979; Winter et al, 1981; Fitch et al, 1982]). Most infants with NLS are stillborn or die shortly after birth, within minutes to a few hours [Lazjuk et al, 1979; King et al, 1995; Driggers et al, 2002]. Nevertheless, one of the original patients reported by Neu et al [1971] survived 7 weeks.…”

Section: Discussionmentioning

confidence: 99%

Neu–Laxova syndrome: Detailed prenatal diagnostic and post‐mortem findings and literature review

Manning

Cunniff

Colby

et al. 2003

American J of Med Genetics Pt A

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Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system (CNS) anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. We present two new patients with NLS with striking prenatal diagnostic findings and detailed post-mortem examinations and review the previously described cases in the literature. Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS.

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“…None of them were observed in our case 1. In addition, polyhydramnios is a frequent sonographic sign (31% of cases) [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] that was not present in our case 1.…”

Section: Discussionmentioning

confidence: 80%

“…As the result of these findings, we wanted to review all the cases published to date, representing the most important clinical and ultrasound features in the following table ( Table 1 ). Of the 88 reported cases of NLS to date from genetics laboratories around the world [ 5 ], 81 have been published in the literature in different articles over the years (but the vast majority of them are cases of postnatal diagnosis, cases of prenatal diagnosis are fewer), which are the ones we have analyzed in this review [ 4 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 ]. In most cases, the findings have been studied postmortem by necropsy.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Neu–Laxova Syndrome

et al. 2022

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Neu–Laxova syndrome is a rare and lethal genetic disease with autosomal recessive inheritance involving abnormalities of multiple systems. It was first reported in 1971. Since then, just eighty-eight cases have been reported. The syndrome is characterized by early and severe growth restriction, and craniofacial anomalies, such as microcephaly, hypertelorism and other malformations, resulting in quite characteristic features. Additionally, it might appear as generalized edema, flexion contractures and other malformations of the extremities, abnormalities in the CNS (central nervous system), skin (severe ichthyosis), and genitourinary and cardiac abnormalities. We present the case of a patient who had her first pregnancy with a fetus with Neu–Laxova syndrome diagnosed in our center during the second-trimester ultrasound. The ultrasound findings suggested the diagnosis, which was confirmed with a genetic study of the amniotic fluid: the variant of the PSAT1 gene, associated with NLS (Neu–Laxova syndrome) 2 in homozygosis. Moreover, there was a second pregnancy with a fetus carrying the same mutation in heterozygosis. In addition, we have carried out a review of published literature about this disease up to the present time.

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Early second trimester prenatal diagnosis of Neu‐Laxova syndrome

Cited by 19 publications

References 9 publications

Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

Neu–Laxova syndrome: Detailed prenatal diagnostic and post‐mortem findings and literature review

Prenatal Diagnosis of Neu–Laxova Syndrome

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