Short rib-polydactyly syndrome (Saldino-Noonan type) undetected by standard prenatal genetic testing

Abstract: Short rib-polydactyly syndrome (SRPS) is an extremely rare lethal skeletal dysplasia characterized by organ abnormalities, polydactyly, shortened tubular bones and a constricted thoracic cage [Saldino RM. Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. Am J Roentgenol. 1971;112:185–97]. In this case, we describe a neonate born with Type I SRPS (Saldino-Noonan type). Prenatal ultrasounds were suspicious for skeletal dysplasia, but prenatal genetic testing was negative. Postnatally, the infant was found to have severely hypoplastic lungs, a large patent ductus arteriosus, hydrops fetalis, polydactyly and a saddle nose. Postnatal DNA sequencing confirmed the diagnosis of SRPS and revealed a compound heterogeneous mutation in a gene involved in primary cilia synthesis. Ultimately, the infant was withdrawn from life support at 7 days due to severe respiratory decompensation from the lung hypoplasia.

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: Short rib-polydactyly syndrome (Saldino-Noonan type) undetected by standard prenatal genetic testing ; volume:7 ; number:2 ; year:2018 ; extent:4 ; Case reports in perinatal medicine ; 7, Heft 2 (2018) (gesamt 4)

Beteiligte, Orts- und Zeitangaben

• Urheber: Lucia, Liao ; Jack, Richard ; Millington, Karmaine A. ; Oji-Mmuo, Christiana N.

Weitere Informationen

• DOI: 10.1515/crpm-2017-0027
• URN: urn:nbn:de:101:1-2411121526179.744453422479
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 15.08.2025, 07:20 MESZ