Neu-Laxova Syndrome: Pathological Evaluation of a Fetus and Review of the Literature

King, Judy; Gardner, Veronice; Chen, Harold; Blackburn, Will R.

doi:10.3109/15513819509026940

Cited by 31 publications

(37 citation statements)

References 29 publications

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“…Lissencephaly was found in two of the four atypical NLS patients examined in this report. It was not present in patient 5 (typical NLS); it is present in approximately 38% of cases with typical NLS [King et al, 1995].…”

Section: Discussionmentioning

confidence: 98%

“…Patients with typical NLS usually have microcephaly with normal vertebral bodies and long bones. The case report included in the review article by King et al [1995] described a patient with hemivertebrae and kyphoscoliosis, findings not usually reported in NLS. However, the long bones were normal in this patient.…”

Section: Discussionmentioning

confidence: 99%

“…Mueller et al [1983] agreed that patients 1 and 2 described by Scott et al [1981] constituted a distinct entity. The review article of NLS by King et al [1995] excluded patients 1 and 2 of Scott et al [1981].…”

Section: Discussionmentioning

confidence: 99%

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Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

Elliott

Gonzalès

et al. 2002

Am. J. Med. Genet.

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Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes. Patients are usually stillborn or die shortly after birth. We report five unrelated patients--four with atypical NLS and one with typical NLS. All five patients were stillbirths. Clinically, the atypical NLS patients showed a large skull; rhizo-, meso-, and acromelia; and hypoplasia of the metacarpals and phalanges. The feet were similarly affected. Radiographically, the atypical patients showed interpediculate narrowing and hypoplastic vertebral bodies. The long bones were stick-like, showing diaphyseal widening that spared the metaphyses and was more pronounced in the lower extremities. The ilia had a half-moon configuration with widening of the sacrosciatic notches. The ischia were vertical and the pubic bone was absent. The typical NLS patient showed microcephaly, normal vertebral body, and long bone ossification, but a pelvic configuration similar to that of the atypical NLS patients. The common and distinguishing clinical and radiographic features are reviewed. Scott et al. [1981: Am J Med Genet 9:165-175] described two patients with NLS with radiographic and clinical findings similar to patients 1-4 reported here. Patients 1-4 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

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Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

Elliott

Gonzalès

et al. 2002

Am. J. Med. Genet.

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“…Common Table 1 Clinical features of serine biosynthesis and transport defects. [18][19][20][21][22].…”

Section: Congenital Lethal Serine Biosynthesis Defects: Neu-laxova Symentioning

confidence: 99%

Serine biosynthesis and transport defects

El‐Hattab

2016

Molecular Genetics and Metabolism

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“…Neu-laxova syndrome (NLS) is a rare, autosomal recessively inherited syndrome characterized by intrauterine growth restriction (IUGR), central nervous system (CNS), and skin and limb abnormalities (1,2). Here we present a fetus with this syndrome with a description of its prenatal and postmortem findings.…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis and postmortem findings of Neu-laxova syndrome

Tarım

Bolat

2010

J Turkish German Gynecol Assoc

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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, and gaping mouth. Here we present a fetus having a dysmorphic face with proptotic eyes, retracted eye lids, depressed nasal bridge and micrognathia at 25 weeks of gestation. The extremities were contracted and no fetal movements were observed during the ultrasonographic examination. The fetus also had microcephaly and the amniotic fluid was increased. The pregnancy was terminated and the abnormalities demonstrated on prenatal ultrasound were confirmed at autopsy. (J Turkish-German Gynecol Assoc 2010; 11: 225-7)Key words: Neu-laxova syndrome Received: 8 January, 2010 Accepted: Abstract ÖzetCase Report 225

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Neu-Laxova Syndrome: Pathological Evaluation of a Fetus and Review of the Literature

Cited by 31 publications

References 29 publications

Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

Serine biosynthesis and transport defects

Prenatal diagnosis and postmortem findings of Neu-laxova syndrome

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