释义 |
stiff baby syndrome An autosomal dominant [MIM 149400] and autosomal recessive disease of variable penetration, which is characterised by increased startle reflex and virtually continuous motor activity by EMGstiff baby syndrome Hereditary stiff-man syndrome An AD complex of variable penetration, characterized by ↑ startle reflex and virtually continuous motor activity by EMG Clinical Choking, vomiting, dysphagia, which may improve with age. Cf Floppy infant syndrome, Stiff man syndrome. stiff baby syndromeAn inherited disorder marked by muscular rigidity that appears in the first days of life. It may be associated with an excessive startle response, apnea, gait disturbance, or regurgitation of foods. |