Shprintzen-Goldberg Syndrome: Case Report
Journal Title: Meandros Medical and Dental Journal - Year 2018, Vol 19, Issue 2
Abstract
Shprintzen-Goldberg syndrome is a rare syndrome with craniosynostosis of coronal, sagittal or lambdoidal sutures, dolichocephaly, typical craniofacial features, skeletal abnormalities, scoliosis, joint hyperextensibility or contractures, neurological findings and brain malformations. Fifteen months old male patient with hydrocephalus and dysmorphic facial appearance was referred to our clinic for genetical evaluation. In his dysmorphic examination, the findings were dolichocephaly, prominent forehead and glabella, hypertelorism, prominent eyes, proptosis, depressed nasal root, anteverted nostrils, small nose, low-set and posteriorly rotated, dysplastic ears, microretrognathia, short philtrum, fish mouth of mouth, plump cheeks, high and narrow palate, secondary alveolar arch, pectus carinatum. Hands were small and he had arachnodactyly. Toes were thin. He had also hypotonia and umbilical hernia. With these findings, he was clinically diagnosed as Shprintzen-Goldberg syndrome. This is the first reported case of Shprintzen-Goldberg syndrome from Turkey according to literature review.
Authors and Affiliations
Sinem Yalçıntepe, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan
Keywords
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- EP ID EP382197
- DOI 10.4274/meandros.2209
- Views 125
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