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It is characterized by bone fragility and fractures similar in severity and variability to osteogenesis\u2010imperfecta as well as congenital joint contractures. This article describes an infant with a homozygous (partial) gene deletion of <jats:italic>PLOD2<\/jats:italic> that includes the start codon and would be expected to lead to nonfunctional protein product. The infant had a severe phenotype of Bruck syndrome and is the only reported case of Bruck syndrome with congenital cardiac disease (triscuspid valve dysplasia with severe regurgitation, mitral valve prolapses with moderate regurgitation, and pulmonary hypertension) and pulmonary hemorrhage. We hypothesize that the additional feature of congenital cardiac disease in this case was due to the underlying defect in type I collagen, and that the pulmonary hemorrhage was multifactorial, with underlying vessel fragility, rib fractures, and high pulmonary pressures likely to be major contributing factors. Management was largely supportive with the use of bisphosphonates to assist in pain management. Care was complicated by comorbid cardiopulmonary compromise, limited evidence\u2010base guiding care, and difficulties in discussing end\u2010of\u2010life care.<\/jats:p>","DOI":"10.1002\/ajmg.a.63007","type":"journal-article","created":{"date-parts":[[2022,10,25]],"date-time":"2022-10-25T12:23:57Z","timestamp":1666700637000},"page":"265-270","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage"],"prefix":"10.1002","volume":"191","author":[{"given":"Jessica L.","family":"Sandy","sequence":"first","affiliation":[{"name":"Department of Endocrinology The Children's Hospital at Westmead  Westmead New South Wales Australia"},{"name":"School of Women's and Children University of New South Wales  Sydney New South Wales 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