A further patient with the lethal type of Larsen syndrome.
We present a female infant with multiple joint dislocations, flat facies, cleft soft palate, redundant neck skin, pulmonary hypoplasia, and skeletal abnormalities.
Clayton-Smith
J
J
Department of Medical Genetics, St Mary's Hospital, Manchester.
Donnai
D
D
D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities*; D008168:Lung / Q000002:abnormalities*; D008831:Microcephaly; D011859:Radiography; D012886:Skull / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome