Oculo-auriculo-vertebral spectrum in Klinefelter syndrome

被引：0

作者：

Garavelli, L

Virdis, R

Donadio, A

Sigorini, M

Banchini, G

Balestrazzi, P

Fryns, JP

机构：

[1] Santa Maria Nuova Hosp, Dept Pediat & Clin Genet, Reggio Emilia, Italy

[2] Univ Parma, Dept Pediat & Clin Genet, I-43100 Parma, Italy

[3] Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium

来源：

GENETIC COUNSELING | 1999年 / 10卷 / 03期

关键词：

Klinefelter syndrome; oculo-auriculo-verbebral spectrum; hemifacial microsomia; Goldenhar syndrome;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Oculo-auriculo-vertebral spectrum in Klinefelter syndrome: We report a boy with classical 47,XXY Klinefelter syndrome (KS) and oculo-auriculo-vertebral spectrum (OAV). Two patients with KS and OAV were reported previously. Also, the combination of bilateral aplasia of the mandibular ramus and condyle and KS has been documented. The present observation supports the view that the cause of hemifacial microsomia appears heterogeneous and that OAV may be part of the spectrum of craniofacial anomalies associated with KS.

引用

页码：321 / 324

页数：4

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