منابع مشابه
Distal arthrogryposis syndrome
A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyl...
متن کاملAMC: amyoplasia and distal arthrogryposis
Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The common pathogenesis is impaired fetal movements. Amyoplasia, the most frequent form, is a sporadically occurring condition with hypoplastic muscles and joint contractures. Distal arthrogryposis (DA) syndromes are often hereditary, and joint invol...
متن کاملMutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. Sanger sequencing revealed PIEZO2 mutations in five of seven additional fam...
متن کاملARTHROGRYPOSIS Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis
Background. Arthrogryposis Multiplex Congenita, AMC, is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The pathogenesis is impaired fetal movements. Amyoplasia, the most frequent form, is a sporadically occurring condition with hypoplastic muscles and joint contractures. Distal arthrogryposis (DA) syndromes are often hereditary, and joint ...
متن کاملArthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report
INTRODUCTION Arthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth. The involved muscles are partially or totally replaced by fat or fibrous tissue. Talipes equinovarus and scoliosis are also frequently reported. CASE PRESENTATION This 2 year was born after uneventful pregnancy, with normal birth weight and length. The parents are unrel...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2008
ISSN: 0971-6866
DOI: 10.4103/0971-6866.44108