Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations.
Two patients with the Marshall-Smith syndrome are described. Both had significant and fatal respiratory distress attributable to this condition. Congenital, functional, and acquired abnormalities of the respiratory tract are described in nine of the 11 case reports in the literature and are characteristic of this syndrome as well as a primary cause of failure to thrive and death in these patients. Unusual immunologic findings in one of our two patients are the first to be reported in the Marshall-Smith syndrome. Quantitation of immune function in other patients with this condition will be helpful in determining the significance of these results. It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced bone age, and chronic respiratory symptomatology.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D005145:Face; D005260:Female; D006128:Growth; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012120:Respiration Disorders / Q000175:diagnosis*; D015619:Respiratory System Abnormalities; D013577:Syndrome