> Detailanzeige

Schoner, Katharina; Witsch‐Baumgartner, Martina; Behunova, Jana; Petrovic, Robert; Bald, Rainer; Kircher, Susanne G.; Ramaswamy, Annette; Kluge, Britta; Meyer‐Wittkopf, Matthias; Schmitz, Ralf; Fritz, Barbara; Zschocke, Johannes; Laccone, Franco; Rehder, Helga

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Literatur-
verwaltung

Zur
Merkliste

Lösche von
Merkliste

Per Whatsapp teilen

Schließen

Merkliste



Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
  • Medientyp: E-Artikel
  • Titel: Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern
  • Beteiligte: Schoner, Katharina; Witsch‐Baumgartner, Martina; Behunova, Jana; Petrovic, Robert; Bald, Rainer; Kircher, Susanne G.; Ramaswamy, Annette; Kluge, Britta; Meyer‐Wittkopf, Matthias; Schmitz, Ralf; Fritz, Barbara; Zschocke, Johannes; Laccone, Franco; Rehder, Helga
  • Erschienen: Wiley, 2020
  • Erschienen in: Birth Defects Research
  • Sprache: Englisch
  • DOI: 10.1002/bdr2.1620
  • ISSN: 2472-1727
  • Schlagwörter: Health, Toxicology and Mutagenesis ; Developmental Biology ; Toxicology ; Embryology ; Pediatrics, Perinatology and Child Health
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Autosomal‐recessive SLOS is caused by mutations in the <jats:italic>DHCR7</jats:italic> gene. It is defined as a highly variable complex of microcephaly with intellectual disability, characteristic facies, hypospadias, and polysyndactyly. Syndrome diagnosis is often missed at prenatal ultrasound and fetal autopsy</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We performed autopsies and <jats:italic>DHCR7</jats:italic> gene analyses in eight fetuses suspected of having SLOS and measured cholesterol values in long‐term formalin‐fixed tissues of an additional museum exhibit</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Five of the nine fetuses presented classical features of SLOS, including four cases with atrial/atrioventricular septal defects and renal anomalies, and one with additional bilateral renal agenesis and a Dandy‐Walker cyst. These cases allowed for diagnosis at autopsy and subsequent SLOS diagnosis in two siblings. Two fetuses were mildly affected and two fetuses showed additional holoprosencephaly. These four cases and the exhibit had escaped diagnosis at autopsy. The case with bilateral renal agenesis presented a novel combination of a null allele and a putative C‐terminus missense mutation in the <jats:italic>DHCR7</jats:italic> gene</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>In view of the discrepancy between the prevalence of SLOS among newborns and the carrier frequency of a heterozygous <jats:italic>DHCR7</jats:italic> gene mutation, the syndrome‐specific internal malformation pattern may be helpful not to miss SLOS diagnosis in fetuses at prenatal ultrasound and fetal autopsy</jats:p></jats:sec>