Sinawat Suthasinee, Kitkhuandee Amnat, Auvichayapat Narong, Auvichayapat Paradee, Yospaiboon Yosanan, Sinawat Supat
Department of Ophthalmology, Khon Kaen University, Khon Kaen, Thailand.
J Med Assoc Thai. 2013 Jul;96(7):870-3.
Jacobsen syndrome is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The typical clinical manifestations include physical growth retardation, mental retardation,facial dysmorphisms, congenital heart disease, thrombocytopenia, or pancytopenia. A Thai-Australian girl was born with multiple abnormalities. Typical features and her karyotype, 46, XX, del(ll) (q23-qter), confirmed Jacobson syndrome. She had many uncommon findings including upslanting palpebral fissures, tortuousity of retinal vessels and hypogammaglobulinemia. In addition, this case also presented with protein C deficiency, which has not been reported previously in Jacobsen syndrome. The patient was treated with phototherapy, intravenous antibiotic injection, and platelet transfusion in neonatal period. Cranioplasty was performed for prevention of the increased intracranial pressure at three months of age. Surgical correction for strabismus was in the treatment plan.
雅各布森综合征是一种罕见的连续性基因综合征，由11号染色体长臂部分缺失引起。典型的临床表现包括身体发育迟缓、智力障碍、面部畸形、先天性心脏病、血小板减少或全血细胞减少。一名泰裔澳大利亚女孩出生时伴有多种异常。典型特征和她的核型46, XX, del(11)(q23-qter)确诊为雅各布森综合征。她有许多不常见的表现，包括睑裂向上倾斜、视网膜血管迂曲和低丙种球蛋白血症。此外，该病例还出现了蛋白C缺乏，这在雅各布森综合征中此前尚未有报道。患儿在新生儿期接受了光疗、静脉注射抗生素和血小板输注治疗。三个月大时进行了颅骨成形术以预防颅内压升高。斜视的手术矫正已列入治疗计划。
