Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
- neonatal intensive care
- genetic screening / counselling
- congenital disorders
- musculoskeletal syndromes
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Contributors All authors conceived the study. The case was managed at our institution by our team. AdS was the consultant of the patient (under whom the baby was admitted) and was our team leader. AiS was the clinical geneticist involved in the case. FSM was in the clinical team managing the case and was also responsible for collecting all the details and writing the case report with the help of the other authors.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Parental/guardian consent obtained.
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