Abstract:
A 9 day old neonate was bought by the mother with complaints of multiple deformities.This is a term 2.7kg female child born through uncomplicated normal delivery cried immediately after birth with no nicu admission born to a 26 yr old primi mother and 30 yr old father through non consanguinous marriage with no history of mother taking any medications throughout the preganancy.
Antenatal usg at 20 wk showing polyhydramnios with persistent mild degree of flexion deformity noted at bilateral knee and elbow ,persistent extension deformity noted at bilateral wrist joint,prominent renal pelvis of bilateral fetal kidneys.Possibility of bilateral club feet.With persistently hyperextended cervical spine.Bilateral clenched hand.Bilateral Rocker Bottom foot;imaging findings are s/o Arthrogryposis multiplex congenita on examination she had low set ears ,retrognathia ,high arched palate,hypertelorism,skin dryness present.There was mild pterygia of anti cubical fossa complete extension of elbows doesn’t happen.there is presence of axillary pterygium .There is pterygium of wrist joints.There is bilateral flex ion contracture of interphalyngeal and metacarpo phalyngeal joints with pterygium of fingers with camptodactyly In lower limbs there was bilateral flexors contractures of both hips,knees ,ankles with pterygium of knees.There was bilateral marked rocker bottom heels with short halluces.
Abdominal examination showed no organomegaly .Cardiovascular and respiratory examination were normal
Abdominal ultrasonography showed no abnormalities . caput succadenum was present on usg cranium?echo showing small secundum asd with left to right shunt.
oae showing bilateral hair cells functioning abnormalities
