A Case of Cat Cry Syndrome Associated with Cleft Lip

抄録

Cat cry syndrome (cri-du-chat syndrome) is an extremely rare condition characterized by a high shrill cry during infancy, resulting from either the deletion of the short arm of chromosome 5 or unbalanced translocation inherited from a parent. We report the case of a 1-year-old girl with cat cry syndrome associated with cleft lip. The patient showed a ventricular septal defect, cleft lip, growth and mental retardation, micrognathia, ptosis of the eyelids, hypertelorism, epicanthal folds, and a preauricular tag on the right side. A chromosomal study revealed the terminal deletion of chromosome 5 (46, XX, del(p14.2)ish del(5)). Repair of the cleft lip was carried out concurrently with resection of the preauricular tag, and the patient's postoperative course was uneventful.