Pränatale diagnostik und postnatale komplikationen im fall einer extrem seltenen tetraamelie

Translated title of the contribution: Prenatal diagnostics and postnatal complications in a case of extremely rare tetra-amelia

Alexander Schwickert*, Christof Dame, Sandra Akanbi, Malte Spielmann, Ines Schönborn, Wolfgang Henrich

*Corresponding author for this work

Abstract

Tetra-amelia is extremely rare with an incidence of 2.4 per 10,000,000 births. It describes the absence of all 4 outer extremities and can be associated with other malformations. The boy presented here was diagnosed at 22 1/7 weeks of gestation by sonography in 2D and 3D mode. The parents decided to continue the pregnancy; vaginal birth occurred after external rotation at 38 1/7 weeks of pregnancy. Postnatally, surgical closure of a cleft of the soft palate was performed. External abnormalities manifested themselves increasingly in the area of the spine and the face. The anatomically limited psychomotor development of the child is supported by physiotherapy, occupational therapy, and speech therapy. Various aids enable the child to participate in activities appropriate to his age.

Translated title of the contributionPrenatal diagnostics and postnatal complications in a case of extremely rare tetra-amelia
Original languageGerman
JournalZeitschrift fur Geburtshilfe und Neonatologie
Volume225
Issue number3
Pages (from-to)279-282
Number of pages4
ISSN0948-2393
DOIs
Publication statusPublished - 01.06.2021

Research Areas and Centers

  • Research Area: Medical Genetics

DFG Research Classification Scheme

  • 205-03 Human Genetics

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