A new syndrome of multiple joint dislocations with metaphyseal dysplasia.
A 15-day-old female child is presented with multiple joint dislocations who died during the neonatal period. She had additional features of metaphyseal dysplasia, deficient calcification of vault of the skull, growth retardation, a natal tooth, lymphoedema and facial dysmorphism. This may constitute a new syndrome of multiple joint dislocations with metaphyseal dysplasia.
Phaoke
S R
SR
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Sharma
A K
AK
Agarawal
S S
SS
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D002658:Developmental Disabilities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000151:congenital* / Q000000981:diagnostic imaging; D007596:Joints / Q000002:abnormalities*; D008209:Lymphedema / Q000151:congenital; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome