- amyoplasia,
distal arthrogryposis, and syndromic.
Amyoplasia is
characterized by
severe joint contractures and
muscle weakness.
Distal arthrogryposis mainly involves...
-
stature deafness Arthrogryposis Arthrogryposis due to
muscular dystrophy Arthrogryposis ectodermal dysplasia other anomalies Arthrogryposis epileptic seizures...
- mutations. Freeman–Sheldon
syndrome is a type of
distal arthrogryposis,
related to
distal arthrogryposis type 1 (DA1). In 1996, more
strict criteria for the...
-
Arthrogryposis–renal dysfunction–cholestasis
syndrome is a
cutaneous condition caused by a
mutation in the VPS33B gene. Most of the
cases have been survived...
-
dysgenesis Arterial tortuosity syndrome Arthrogryposis multiplex congenita 1, neurogenic, with
myelin defect Arthrogryposis multiplex congenita 4, neurogenic...
-
childhood is normal. The
syndrome is ****ociated with microcephaly,
arthrogryposis and
cleft palate and
various craniofacial, respiratory, neurological...
-
abnormalities are ****ociated 20% of the time, with the most
common being distal arthrogryposis and myelomeningocele. The
diagnosis may be made at
birth by physical...
- of
pediatric orthopedic disorders such as Blount's disease, rickets,
arthrogryposis multiplex congenita and
osteochondrodysplasias among others. This applies...
-
mutations link
Gordon syndrome (distal
arthrogryposis type 3), Marden-Walker
syndrome and
Arthrogryposis (Distal
Arthrogryposis Type 5). PIEZO1 GRCh38: Ensembl...
-
growth deficiency,
feeding difficulties,
breathing difficulties, and
arthrogryposis (a
muscle disorder that
causes multiple joint contractures at birth)...