First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report

Table 2 Summary of the clinical data of our patient and previously SYNE1 AMC3 reported cases

Clinical Data	Patient 1 (our patient)	Patient 2 (1^st sibling in Attali et al. report) [7]	Patient 3 (2nd sibling in Attali et al. report) [7]	Patient 4 (Baumann et al. report)⁵
Sex	Male	Male	Female	Male
Antenatal reduced fetal movements	Yes	Yes	Yes	Yes
Polyhydramnios	No	No	No	No
Inheritance	AR	AR	AR	AR
Dysmorphic feature	Yes	No	No	No
Skeletal	Severe	Severe	Severe	NA
Spine	Scoliosis	Kyphoscoliosis	Scoliosis	NA
Clenched hands	Yes	NA	NA	No Only adducted thumb
Club feet	Yes	Yes	Yes	Yes
Joints dislocation	Yes	NA	NA	NA
Arthrogryposis	Yes	Yes	Yes	Yes
Undescended testicles	Yes	NA	NA	Yes
Neurologic
Microcephaly	No	No	No	No
Severe generalized Hypotonia	Yes	Yes	Yes	Yes
Deep tendon Reflexes	Absent	Absent	Absent	Reduced
Epilepsy	No	No	No	NA
Intelligence	Normal	Normal	Normal	Low
MRI brain	Normal	NA	NA	NA
EMG	Normal	Normal	Normal	Normal
CK level	Normal	Normal	Normal	Normal
Disease course	Progressive	Progressive	Progressive	Progressive
Outcomes	Alive	Died at age of 22 years due to pneumonia and sepsis	Alive	Alive

NA data not available
There was very limited clinical data about the two siblings reported by Laquerriere et al.⁶ and they were not included in this table

ISSN: 1824-7288