We report clinical and cytogenetic findings of 4 children (2 boys and 2 girls) with the Smith-Magenis syndrome. All 4 patients had an interstitial deletion of 17p: del(17) (p11.2p11.2). Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the fifth fingers, fingertip pads, moderate mental retardation, and behavior problems. Analysis of the metacarpophalangeal pattern profiles in patient 2 showed progressive shortness from the metacarpals to the proximal, middle, and the distal phalanges. The fingerpads observed in all 4 patients have hitherto been noted in only one of 26 previously reported patients with the syndrome. These findings serve as a useful clue to the diagnosis of the syndrome.
A 76-year-old woman underwent laparotomy at another hospital because of acute abdomen. Owing to strong attachment and dissemination of the tumor, it was unresectable. Adult-type granulosa cell tumor (AGCT) was diagnosed based on pathological examination. Considering her poor condition, she was advised to receive total supportive care. However, she was lost to follow-up after a few months. Subsequently, she visited our hospital with abdominal distension. A large abdominal tumor and liver metastasis was observed on abdominal computed tomography (CT). We selected palliative radiotherapy to relieve her of the symptoms. External beam radiotherapy was delivered to the affected data. No acute adverse effects were observed. We observed reduction in tumor size on postoperative abdominal CT. She is still alive with no signs of tumor progression for 30 months. Palliative radiotherapy is effective for patients with advanced-stage AGCT and abdominal complaints.
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