Rare Manifestations of Neu-Laxova Syndrome

Badakali, Meenakshi; Badakali, Ashok V; Dombale, Vijay

doi:10.3109/15513815.2011.618864

Cited by 11 publications

(7 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…General information: Rare lethal autosomal recessive syndrome caused by mutations in PHGDH , a gene involved in the serine metabolism. About 70 cases reported so far …”

Section: Glossarymentioning

confidence: 99%

“…CNS: Profound microcephaly is a consistent finding. Additionally, lissencephaly (43% of patients), cerebellar hypoplasia (39% of patients), callosal agenesis or dysgenesis (35% of patients), ventriculomegaly (23% of patients), and calcifications (7% of patients) …”

Section: Glossarymentioning

confidence: 99%

“…About 70 cases reported so far. 186 Somatic findings: Severe intrauterine growth retardation, ichthyosis, and perinatal death. 186 Craniofacial dysmorphic features including slanted forehead (70% of patients), hypertelorism (52% of patients), protruding/abnormal eyes (51% of patients), abnormal eyelids (36% of patients), lowset/malformed ears (61% of patients), flat/abnormal nose (65% of patients), micrognathia (52% of patients), cleft palate (25% of patients), cleft lip (13% of patients), and abnormal mouth (25% of patients).…”

Section: Ectrodactyly-ectodermal Dysplasia Cleft-palate Syndrome Typementioning

confidence: 99%

“…186 Somatic findings: Severe intrauterine growth retardation, ichthyosis, and perinatal death. 186 Craniofacial dysmorphic features including slanted forehead (70% of patients), hypertelorism (52% of patients), protruding/abnormal eyes (51% of patients), abnormal eyelids (36% of patients), lowset/malformed ears (61% of patients), flat/abnormal nose (65% of patients), micrognathia (52% of patients), cleft palate (25% of patients), cleft lip (13% of patients), and abnormal mouth (25% of patients). 187 Skeleton: Microcephaly (82% of patients), deformity of digits (66% of patients), deformity of limbs (44% of patients), flexion deformity (70% of patients), syndactyly of fingers (30% of patients), syndactyly of toes (23% of patients), rocker bottom feet (49% of patients), and scoliosis (12% of patients).…”

Section: Ectrodactyly-ectodermal Dysplasia Cleft-palate Syndrome Typementioning

confidence: 99%

“…Additionally, lissencephaly (43% of patients), cerebellar hypoplasia (39% of patients), callosal agenesis or dysgenesis (35% of patients), ventriculomegaly (23% of patients), and calcifications (7% of patients). 186 Chromosome 18q deletion syndrome (OMIM: 601808) General information: Shares many aspects with 18p deletion syndrome; birth incidence of 2.5 in 100,000 births.…”

Section: Ectrodactyly-ectodermal Dysplasia Cleft-palate Syndrome Typementioning

confidence: 99%

See 4 more Smart Citations

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

View full text Add to dashboard Cite

Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

show abstract

“…General information: Rare lethal autosomal recessive syndrome caused by mutations in PHGDH , a gene involved in the serine metabolism. About 70 cases reported so far …”

Section: Glossarymentioning

confidence: 99%

Section: Glossarymentioning

confidence: 99%

Section: Ectrodactyly-ectodermal Dysplasia Cleft-palate Syndrome Typementioning

confidence: 99%

Section: Ectrodactyly-ectodermal Dysplasia Cleft-palate Syndrome Typementioning

confidence: 99%

Section: Ectrodactyly-ectodermal Dysplasia Cleft-palate Syndrome Typementioning

confidence: 99%

See 3 more Smart Citations

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

View full text Add to dashboard Cite

show abstract

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Abdelfattah

Kariminejad²,

Kahlert

et al. 2020

Human Mutation

View full text Add to dashboard Cite

Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu–Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre‐ or perinatal lethality. Here, we present the mutation spectrum and a detailed phenotypic analysis in 15 unrelated families with severe types of serine biosynthesis disorders. We identified likely disease‐causing variants in the PHGDH and PSAT1 genes, several of which have not been reported previously. Phenotype analysis and a comprehensive review of the literature corroborates the evidence that serine biosynthesis disorders represent a continuum with varying degrees of phenotypic expression and suggest that even gradual differences at the severe end of the spectrum may be correlated with particular genotypes. We postulate that the individual residual enzyme activity of mutant proteins is the major determinant of the phenotypic variability, but further functional studies are needed to explore effects at the enzyme protein level.

show abstract

Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect

El‐Dessouky,

Sharaf‐Eldin,

Aboulghar

et al. 2024

Prenatal Diagnosis

View full text Add to dashboard Cite

ObjectiveThe purpose of this study was to improve our understanding of severe serine biosynthesis defects through a comprehensive description of prenatal, and postnatal manifestations and the mutational spectrum in a new cohort of 12 unrelated Egyptian Families.MethodsDetailed fetal ultrasound examination, postnatal assessment, and whole exome sequencing (WES) were performed in a cohort of 12 fetuses with suspected Neu–Laxova syndrome (NLS), the most severe expression of serine biosynthesis defects. Additionally, a comprehensive review of the literature was conducted by merging the data from all the molecularly‐confirmed cases with ours to gain a better understanding of the clinical variability of NLS.ResultsNovel clinical manifestations including intrauterine convulsions, hemivertebrae, natal teeth, holoprosencephaly, and rhombencephalosynapsis were observed. Molecular analysis identified 7 and 2 likely disease‐causing variants in the PSAT1 and PHGDH genes, respectively. Four of them were novel, including the c.734G>A missense variant in PSAT1, which has been proposed to be a founder variant among Egyptians.ConclusionThe present cohort expands the spectrum of serine biosynthesis disorders. Moreover, it illuminates the role of prenatal exome sequencing in lethal conditions constituting the most severe end of already‐known human diseases.

show abstract

Rare Manifestations of Neu-Laxova Syndrome

Cited by 11 publications

References 10 publications

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect

Contact Info

Product

Resources

About