Marshall-Smith syndrome: further delineation.
We have reported a case of the Marshall-Smith syndrome, a condition characterized by accelerated bone maturation, dysmorphic features, respiratory compromise, failure to thrive, neuro-developmental abnormalities, and death in early infancy. Early evaluation of upper airway obstruction in these children may be important in prolonging life. Although the prognosis has been poor to date, early recognition and aggressive multi-disciplinary therapy may permit further investigation into the cause and appropriate management of this disorder.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000402:Airway Obstruction / Q000209:etiology*; D001848:Bone Diseases, Developmental / Q000473:pathology*; D005147:Facial Bones / Q000002:abnormalities*; D005183:Failure to Thrive / Q000209:etiology*; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011379:Prognosis; D011596:Psychomotor Disorders / Q000209:etiology*; D012886:Skull / Q000002:abnormalities*; D013398:Sudden Infant Death; D013577:Syndrome