| A Case of Trisomy 9 Mosaicism Mimicking Smith-Lemli-Opitz Syndrome |
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Su Jin Kim, Jin Hwa Jeong, Sung Min Cho |
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Department of Pediatrics, College of Medicine, Dongguk University, Pohang, Korea |
| Smith-Lemli-Opitz 증후군으로 오인되었던 Trisomy 9 Mosaicism |
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김수진, 정진화, 조성민 |
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동국대학교 의과대학 소아과학교실 |
Correspondence:
Su Jin Kim, Email: sjkimped@hanmail.net
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| Abstract |
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Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and
mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS
anomalies, as well as craniofacial anomalies such as microcephaly, micrognathia, narrowed temples,
prominent occiput, broad-based nose with bulbous tip, low set ears, deeply set eyes, short
palpebral fissure and small mouth. This syndrome was first reported back in 1973 by Haslam and
others, and has hardly ever been reported since. In Korea, a complete form of trisomy 9 syndrome
was first reported in 1998 by Chun and others, but trisomy 9 mosaicism has not been
reported yet. We recently experienced a case with a patient who was most likely suspected as
diet therapy requiring Smith-Lemli-Opitz Syndrome(SLO), since the patient had unilateral ptosis,
hypospadias, micrognathia, simian crease, and low set ears, which are the characteristics not yet
reported as trisomy 9 mosaicism, but most similar to Smith-Lemli-Opitz syndrome. Also, the
patient did not show the typical characteristics of trisomy 9 mosaicism such as broad nose or
enophthalmosis. However, further evaluation was taken in order to make the correct diagnosis,
and the serum cholesterol level of the patient was shown to be normal, which implied normal
cholesterol metabolism, but the chromosomal studies of the patient confirmed the karyotype of
47,XY,＋9/46,XY, which proved that the patient has trisomy 9 mosaicism. |
| Key Words:
Trisomy 9 mosaicism, Smith-Lemli-Opitz syndrome |
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