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Case Report

Jacobsen Syndrome: Are We Informative Enough

Khera Daisy* , Khera Daisy* , Katiyar Anunaya* , Singh Kuldeep*

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Pediatric Education and Research 4(3):p 171-173, Sept - Dec 2016. | DOI: DOI: https://dx.doi.org/10.21088/per.2321.1644.4316.7

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Abstract

 Jacobsen syndrome is a rare syndrome caused due to deletion of long arm of chromosome 11. Typical clinical manifestations include physical growth retardation, mental retardation, facial dysmorphism, congenital heart disease, thrombocytopenia. The patient admitted with us at one and a half year had facial anomalies including flat occiput, prominent forehead, trigonocephaly, blue sclera, downslanting palpebral fissure, broad nose, hypertelorism, low set ears, high arched palate with bilateral eversion of foot and thrombocytopenia. Karyotyping confirmed deletion of chromosome 11q.

Keywords: Jacobsen Syndrome; Trigonocephaly; Thrombocytopenia; Heart Defects; 11q Deletion.

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DOI: DOI: https://dx.doi.org/10.21088/per.2321.1644.4316.7

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