Prenatal and postnatal findings in five cases of Fryns syndrome

Peron, Angela; Bedeschi, Maria Francesca; Fabietti, Isabella; Baffero, Giulia Maria; Fogliani, Roberto; Ciralli, Fabrizio; Mosca, Fabio; Rizzuti, Tommaso; Leva, Ernesto; Lalatta, Faustina

doi:10.1002/pd.4447

Cited by 4 publications

(5 citation statements)

References 17 publications

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“…Neither facial dysmorphism (other than cleft lip) nor digital hypoplasia were visualized on ultrasound (latest scan at 17 weeks' gestation). However, a recent study comparing prenatal and postnatal findings in Fryns syndrome reported that neither facial dysmorphism nor distal digital hypoplasia can be reliably detected prenatally, while both can be readily appreciated postnatally [Peron et al., ]. As neither fetus underwent a post‐mortem or external examination, these particular phenotypic features cannot be ruled out.…”

Section: Discussionmentioning

confidence: 99%

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

et al. 2016

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Fryns syndrome is an autosomal recessive condition characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal digital hypoplasia, and other associated malformations, and is the most common syndromic form of CDH. No gene has been associated with this condition. Whole-exome sequence data from two siblings and three unrelated individuals with Fryns syndrome were filtered for rare, good quality, coding mutations fitting a recessive inheritance model. Compound heterozygous mutations in PIGN were identified in the siblings, with appropriate parental segregation: a novel STOP mutation (c.1966C>T: p.Glu656X) and a rare (minor allele frequency <0.001) donor splice site mutation (c.1674+1G>C) causing skipping of exon 18 and utilization of a cryptic acceptor site in exon 19. A further novel homozygous STOP mutation in PIGN (c.694A>T: p.Lys232X) was detected in one unrelated case. All three variants affected highly conserved bases. The two remaining cases were negative for PIGN mutations. Mutations in PIGN have been reported in cases with multiple congenital anomalies, including one case with syndromic CDH. Fryns syndrome can be caused by recessive mutations in PIGN. Whether PIGN affects other syndromic and non-syndromic forms of CDH warrants investigation.

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Section: Discussionmentioning

confidence: 99%

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

et al. 2016

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“…The postnatal survival rate is estimated at only 14–16%. Survivors have severe developmental delay and seizures …”

Section: Glossarymentioning

confidence: 99%

“…CNS: Variety of cerebral malformations including ventriculomegaly, callosal agenesis, gray matter heterotopias, and vermian hypoplasia . Polymicrogyria and absent olfactory bulbs in rare cases …”

Section: Glossarymentioning

confidence: 99%

“…Survivors have severe developmental delay and seizures. 320 Somatic findings: Diaphragmatic hernia, distal digital hypoplasia, and ocular, cardiovascular, and genitourinary abnormalities. Dysmorphic facial features include coarse face, hypertelorism, broad and flat nasal bridge with thick nasal tip, long philtrum, tented upper lip, wide mouth, micrognathia, and lowset ears.…”

Section: Gómez-lópez-hernández Syndrome (Omim: 601853)mentioning

confidence: 99%

“…321 Polymicrogyria and absent olfactory bulbs in rare cases. 320,321 Marden-Walker syndrome (OMIM: 248700) General information: Rare syndrome overlapping with other arthrogryposis syndromes.…”

Section: Gómez-lópez-hernández Syndrome (Omim: 601853)mentioning

confidence: 99%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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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.

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Fryns Syndrome

2016

Diagnostic Imaging: Obstetrics

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Prenatal and postnatal findings in five cases of Fryns syndrome

Cited by 4 publications

References 17 publications

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Fryns Syndrome

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