Open AccessShprintzen-Goldberg Syndrome: A Rare Disorder
Author(s) -
Attia Bari,
Nadia Sadaqat,
Nadia Nawaz,
Iqbal Bano
Publication year - 2019
Publication title -
jcpsp
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.229
H-Index - 33
eISSN - 1681-7168
pISSN - 1022-386X
DOI - 10.29271/jcpsp.2019.06.s41
Subject(s) - medicine , marfan syndrome , craniosynostosis , ectopia lentis , connective tissue disorder , facial dysmorphism , joint hypermobility , genetic disorder , chinese family , arachnodactyly , pediatrics , genetics , gene , pathology , anatomy , surgery , biology , disease , phenotype
The Shprintzen-Goldberg syndrome (SGS) or velo-cardio-facial syndrome (VCFS) is an extremely rare disorder of connective tissue with a characteristic facial dysmorphism, marfanoid features, craniosynostosis, dolichocephaly, cardiovascular anomalies and mild to moderate mental retardation. It may be a de novo gene mutation or inherited as an autosomal dominant disorder having SKI gene and Fibrillin-1 gene (FBN1) mutations, located on chromosome 15q21.1. We report a case of a 3-month, developmentally delayed male infant admitted to the hospital with syndromic facies, craniosynostosis, joint laxity and on echocardiography, aortic root dilatation. A probable diagnosis of SGS was made on the clinical grounds. We did not have the facility for genetic chromosomal analysis. He was discharged with family counselling and follow-up for future developmental rehabilitation.