抄録
We present a case of Marshall-Smith syndrome, characterized by accelerated osseous maturation, craniofacial anomalies, failure to thrive, psychomotor delay, pulmonary dysfunction, and limited life expectancy. Recently, Marshall-Smith syndrome's clinical variability is becoming apparent and the phenotype is expanding. Our case had craniofacial anomalies, including prominent eyes, external strabismus, blue sclera, flat nasal bridge, and micrognatia. Moreover, she showed extension of the hip joint, hypotonia, and arachnodactyly. She was referred to our hospital due to dysmorphic facies at 7 mo and overgrowth was noticed with a height of 74.2 cm (+2.7 SD). Radiographic surveys demonstrated accelerated osseous maturation with a bone age of 1 yr 6 mo at the chronological age of 10 mo and broad proximal phalanges. We diagnosed this case as Marshall-Smith syndrome according to clinical features and radiographic findings. Except for one episode of broncho-pulmonitis which required hospitalization, she has not had other severe infections up to date. Presently, she is 1 yr 9 mo; 88.0 cm (+2.1 SD) and 10.4 kg (-0.3 SD). This case suggests that there are patients with Marshall-Smith syndrome without life-threatening complications.
