第７染色体異常を伴った正中上唇裂の１例

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タイトル別名
  • A case of median cleft of the upper lip with partial monosomy 7
  • ショウレイ ホウコク ダイ7 センショクタイ イジョウ オ トモナッタ セイチュウ ジョウシンレツ ノ 1レイ

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7q deletion syndrome is an uncommon congenital anomaly caused by deficiency of the long arm of the seventh autosome. This syndrome is infrequently associated with cleft lip or palate and is rarely associated with median cleft of the upper lip. We report on a girl who had a median cleft of the upper lip with 7q deletion syndrome. Her gestational age and birth weight were 38weeks and 2, 646g, respectively. She had a median cleft of the upper lip with a flat nose; the premaxilla was missing. As she grew, mental retardation, growth disturbance, hypernatremia, and hypothyroidism became apparent. Chromosome examination showed aberration of 46, XX, del (7)(q35, 3). Lip plasty was performed under general anesthesia when the patient was 1 year old, and the postoperative course was uneventful. She is now 3years old, but cannot speak or drink. She can walk about 2m by herself. Further follow up is necessary for her development, including maxillofacial growth.

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