| A Case of Greig Cephalopolysyndactyly Syndrome |
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Seon Hee Shin1, Je Woo Kim1, Young Ah Lee1, Hae Sun Yoon1, Hyun Chan Cho2 |
1Departments of Pediatrics, College of M edicine, H allym University, Seoul, Korea
2Departments of Pediatrics, College of M edicine, H allym University, Seoul, Korea |
| Greig Cephalopolysyndactyly 증후군 1례 |
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신선희1, 김제우1, 이영아1, 윤혜선1, 조현찬2 |
1한림대학교 의과대학 강남성심병원 소아과
2강동성심병원 임상병리과 |
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| Abstract |
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Greig cephalopolysyndactyly syndrome(GCPS) is a disorder characterized by postaxial polydactyly
of the hand, broad or occasionally bifid thumbs, preaxial polydactyly of the feet, broad halluces,
syndactyly of the fingers or toes, macrocephaly, frontal bossing, hypertelorism and a broad nasal
bridge. Intelligence is usually normal, although borderline IQ has been reported. Advanced bone
age, mild hydrocephalus, craniosynostosis and agenesis of the corpus callosum are occasionally
associated abnormalities. We report here a 10-day-old male infant with GCPS. Birth Weight was
2,400kg and gestational age was 39 wks. He had a wide broad high forehead, hypertelorism,
broad nose base and cryptorchidism. He had preaxial polysyndactyly due to duplication of the
right thumb and left accessory thumb, duplication of both halluces and syndactyly of both toes
and fingers. His brain MRI showed corpus callosum agenesis, mild hydrocephalus and small
choroid plexus cyst. High resolution chromosomal analysis showed a de novo balanced translocation
46, XY, t(7;8)(p22;q24.1). We report the first GCPS case in Korea with brief literature. |
| Key Words:
Greig cephalopolysyndactyly syndrome, t(7, 8)(p22, q24.1) |
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