A new lethal neonatal short limb dwarfism.
We report on a baby with an apparently new type of lethal short limb dwarfism. The inheritance appears to be autosomal recessive.
al Gazali
L I
LI
Department of Paediatrics, FMHS, UAE University, Al Ain.
Devadas
K
K
Hall
C M
CM
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005804:Genes, Lethal; D006801:Humans; D006811:Humerus / Q000002:abnormalities / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D006831:Polyhydramnios; D011247:Pregnancy; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging