Distal arthrogryposis syndrome

Abstract

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 camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

Thick Filament Protein Network, Functions, and Disease Association

“…Two novel autosomal dominant missense mutations residing in Ig domain C2, Pro319Leu and Glu359Lys, were also linked to DA-2 (325). DA-2 is a more severe form of DA, which is also characterized by contractures of the hands and feet, but is often accompanied by mild to severe craniofacial anomalies and/or scoliosis (35, 300). Even though the exact effects of the Pro319Leu and Glu359Lys mutations are still unknown, their location suggests that they may affect binding to the S2 portion of myosin and/or actin either by inducing an unfavorable conformation (Pro319Leu) or altering surface electrostatic interactions (Glu359Lys).…”

MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn

“…These include clubfoot, vertical talus, camptodactyly, overriding fingers and ulnar deviations of the fingers with no additional anomalies (Hall, 1985 ; Klemp and Hall, 1995 ; Gurnett et al, 2010 ). DA type-2 (DA-2) is a more severe form of DA, also characterized by contractures of the hands and feet, that is often accompanied by mild to severe craniofacial anomalies and/or scoliosis (Kulkarni et al, 2008 ; Bamshad et al, 2009 ). There are two subtypes of DA-2, including DA-2A (Freeman-Sheldon syndrome) and DA-2B (Sheldon-Hall syndrome) (Kulkarni et al, 2008 ; Bamshad et al, 2009 ; Li et al, 2015 ).…”

“…DA type-2 (DA-2) is a more severe form of DA, also characterized by contractures of the hands and feet, that is often accompanied by mild to severe craniofacial anomalies and/or scoliosis (Kulkarni et al, 2008 ; Bamshad et al, 2009 ). There are two subtypes of DA-2, including DA-2A (Freeman-Sheldon syndrome) and DA-2B (Sheldon-Hall syndrome) (Kulkarni et al, 2008 ; Bamshad et al, 2009 ; Li et al, 2015 ). While individuals with DA-2B Sheldon-Hall syndrome display mild to moderate facial contractures, individuals with DA-2A Freeman-Sheldon syndrome have moderate to severe facial contractures (Beck et al, 2013 ; Li et al, 2015 ).…”

Serial Operational Treatment of Arthrogryposis With Complete Dislocation of Hips and Knees

“…Patients with distal arthrogryposis have fixed hand and foot contractures, but the major large joints of the arms and legs are spared (8). AMC may include many congenital and genetic symptoms, making it hard to be diagnosed as arthrogryposis multiple symptoms (9). AMC is a distinct entity which needs to be delineated from the other arthrogryposis types (~10 types so far) and other syndromes in which stiff joints are a part of the phenotype (~150 syndromes).…”