A case of median cleft of the upper lip with partial monosomy 7

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  • KATSURAGI Akiko
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • ABE Atsushi
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • OHNO Fumi
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • MAEDA Masahito
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • NAKANO Masaya
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University
  • KURITA Kenichi
    First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University

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  • 第７染色体異常を伴った正中上唇裂の１例
  • 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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Abstract

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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