Steven Mumm, Gary S Gottesman, Deborah Wenkert, Philippe M Campeau, Angela Nenninger, Margaret Huskey, Vinieth N Bijanki, Deborah J Veis, Aileen M Barnes, Joan C Marini, Marina Stolina, Fan Zhang, William H McAlister, Michael P Whyte
Bruck syndrome (BRKS) is the rare disorder that features congenital joint contractures often with pterygia and subsequent fractures, early on called osteogenesis imperfecta (OI) type XI (OMIM # 610968). Its two forms, BRKS1 (OMIM # 259450) and BRKS2 (OMIM # 609220), reflect autosomal recessive (AR) inheritance of FKBP10 and PLOD2 loss-of-function mutations, respectively. A 10-year-old girl was referred with blue sclera, osteopenia, poorly-healing fragility fractures, Wormian skull bones, cleft soft palate, congenital fusion of cervical vertebrae, progressive scoliosis, bell-shaped thorax, restrictive and reactive pulmonary disease, protrusio acetabuli, short stature, and additional dysmorphic features without joint contractures...
August 28, 2019: Bone