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Licensed Unlicensed Requires Authentication Published by De Gruyter November 15, 2021

Infrequent association of two rare diseases: amniotic band syndrome and osteogenesis imperfecta

  • Savaş Mert Darakci ORCID logo EMAIL logo , Sabahattin Ertuğrul ORCID logo , Sibel Tanrıverdi Yılmaz ORCID logo , Edip Ünal ORCID logo , İlyas Yolbaş ORCID logo and İbrahim Değer ORCID logo

Abstract

Objectives

Amniotic band syndrome and osteogenesis imperfecta are two distinct diseases that develop due to structural defects of the collagen protein. In our paper, we report the concurrence of these two diseases rarely seen in the newborn period.

Case presentation

A female infant born at 33rd gestational week was found to have constrictive bands in her right lower extremity and flexion contractures in distal joints of lower and upper extremities due to amniotic bands in postnatal physical examination. While being treated for respiratory difficulty, she was diagnosed with osteogenesis imperfecta and treated with bisphosphonates upon being found to suffer bilateral humeral fractures on the sixth day of life. She received respiratory support with mechanical ventilation due to respiratory tract complications related to osteogenesis imperfecta and died on the 384th day of life.

Conclusions

One should bear in mind that other collagen tissue diseases may accompany the amniotic band syndrome; this possibility should be definitely pursued if clinical suspicion exists.


Corresponding author: Savas Mert Darakci, MD, Pediatrics and Child Health, Diyarbakır Egil County State Hospital, Eğil, Diyarbakir, Turkey, Phone: +90 553 958 89 21, E-mail:

  1. Research funding: None declared.

  2. Author contributions: SMD conceived of the article and participated in design and coordination. SE supervised the study. STY participated in literature review. EU carried out genetic studies and participated in design of article. IY drafted the manuscript. ID participated in collecting data. All authors read and approved the final manuscript. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The local Institutional Review Board deemed the study exempt from review.

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Received: 2021-04-17
Accepted: 2021-11-02
Published Online: 2021-11-15

© 2021 Walter de Gruyter GmbH, Berlin/Boston

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