Abstract
We report a case of a submucous cleft palate with floppy infant and chromosomal abnormality. The patient had nasal emission at milk intake and was brought to our clinic at ten months of age. There was no apparent external malformation except for submucous cleft palate and bifid uvula. A bone defect in the posterior midline of the bony palate was observed. Dyspnea was not observed, though general muscle strength was decreased. A diagnosis of floppy infant with psychomotor retardation was made in the pediatrics department of our hospital at eighteen months of age. Reciprocal translocation of the X chromosome and the 15th chromosome was confirmed by a chromosomal test.
Since we could not rule out the possibility of congenital myopathy considering her frequent febrile convulsions and because of the risk of respiratory insufficiency and malignant hyperthermia due to decreased muscle force, palatoplasty was postponed until three years and two months of age. Palatoplasty was performed by Furlow's method without serious complications related to general anesthesia. Functional recovery of the soft palate after surgery was not sufficient, though nasal emission decreased. It is necessary to evaluate functional recovery of the soft palate and the body by long-term follow-up.
