title: Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report.
abstract: 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.
authors: Department of Ophthalmology, Khon Kaen University, Khon Kaen, Thailand. ssuthasinee@kku.ac.th
authors: Suthasinee
authors: S
authors: Sinawat
authors: Amnat
authors: A
authors: Kitkhuandee
authors: Narong
authors: N
authors: Auvichayapat
authors: Paradee
authors: P
authors: Auvichayapat
authors: Yosanan
authors: Y
authors: Yospaiboon
authors: Supat
authors: S
authors: Sinawat
mesh_terms: D004406:Dysgammaglobulinemia / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D005260:Female; D006801:Humans; D007075:Immunoglobulin M / Q000097:blood; D007223:Infant; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D020151:Protein C Deficiency / Q000150:complications* / Q000175:diagnosis / Q000628:therapy
chemical_list: D007075:Immunoglobulin M