Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenita. 2009

H Yapicioğlu, and K Ozcan, and O Arikan, and M Satar, and N Narli, and M H Ozbek
Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Cukurova University, Adana, Turkey. yyhacer@hotmail.com

Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex. In some patients, mutations in the lysyl hydroxylase 2 gene (PLOD2, 3q23-q24) have been demonstrated. A male newborn with Bruck syndrome is reported.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008240 Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase A mixed-function oxygenase that catalyzes the hydroxylation of peptidyllysine, usually in protocollagen, to peptidylhydroxylysine. The enzyme utilizes molecular oxygen with concomitant oxidative decarboxylation of the cosubstrate 2-oxoglutarate to succinate. EC 1.14.11.4. Lysine 2-Oxoglutarate Dioxygenase,Lysine Hydroxylase,Protocollagen Lysyl Hydroxylase,Collagen Lysyl Hydroxylase,Lysyl Hydroxylase,2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine,2-Oxoglutarate Dioxygenase, Lysine,5-Dioxygenase Procollagen-Lysine, 2-Oxoglutarate,Dioxygenase, Lysine 2-Oxoglutarate,Hydroxylase, Collagen Lysyl,Hydroxylase, Lysine,Hydroxylase, Lysyl,Hydroxylase, Protocollagen Lysyl,Lysine 2 Oxoglutarate Dioxygenase,Procollagen Lysine, 2 Oxoglutarate 5 Dioxygenase
D008297 Male Males
D010013 Osteogenesis Imperfecta COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D001176 Arthrogryposis Persistent flexure or contracture of a joint. Amyoplasia Congenita,Arthromyodysplasia, Congenital,Guerin-Stern Syndrome,Myodystrophia Fetalis Deformans,Arthrogryposis Multiplex Congenita,Arthrogryposis Multiplex Congenita (AMC),Congenital Arthromyodysplasia,Congenital Multiple Arthrogryposis,Fibrous Ankylosis of Multiple Joints,Guérin-Stern Syndrome,Otto Syndrome,Rocher-Sheldon Syndrome,Rossi Syndrome,Arthrogryposes,Arthrogryposes, Congenital Multiple,Arthrogryposis Multiplex Congenitas,Arthrogryposis Multiplex Congenitas (AMC),Arthrogryposis, Congenital Multiple,Arthromyodysplasias, Congenital,Congenita, Arthrogryposis Multiplex,Congenita, Arthrogryposis Multiplex (AMC),Congenital Arthromyodysplasias,Congenital Multiple Arthrogryposes,Congenitas, Arthrogryposis Multiplex,Congenitas, Arthrogryposis Multiplex (AMC),Guerin Stern Syndrome,Guérin Stern Syndrome,Multiple Arthrogryposes, Congenital,Multiple Arthrogryposis, Congenital,Multiplex Congenita, Arthrogryposis,Multiplex Congenita, Arthrogryposis (AMC),Multiplex Congenitas, Arthrogryposis,Multiplex Congenitas, Arthrogryposis (AMC),Rocher Sheldon Syndrome,Syndrome, Guerin-Stern,Syndrome, Guérin-Stern,Syndrome, Otto,Syndrome, Rocher-Sheldon,Syndrome, Rossi
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D017809 Fatal Outcome Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal

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