2014
DOI: 10.21767/amj.2014.1888
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Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child

Abstract: Implications for Practice:

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Cited by 1 publication
(3 citation statements)
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“…It could be noticed that certain clinical features like skeletal and other findings might be subtle during early childhood period due to non-weight bearing of the spine and limbs. 2,8 In the present case, presence of craniosynostosis involving sagittal suture, dysmorphic cranio-facial features in the form of prominent triangular forehead, ocular hypertelorism, down-slanting eyes, narrow high arched palate, malar hypoplasia, micrognathia and retrognathia were observed. There was motor developmental delay, hypotonia, long slender fingers and clinodactyly, hypermobility of joints, congenital umbilical hernia, bilateral undescended testis and patent foramen ovale.…”
Section: Case Reportsupporting
confidence: 46%
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“…It could be noticed that certain clinical features like skeletal and other findings might be subtle during early childhood period due to non-weight bearing of the spine and limbs. 2,8 In the present case, presence of craniosynostosis involving sagittal suture, dysmorphic cranio-facial features in the form of prominent triangular forehead, ocular hypertelorism, down-slanting eyes, narrow high arched palate, malar hypoplasia, micrognathia and retrognathia were observed. There was motor developmental delay, hypotonia, long slender fingers and clinodactyly, hypermobility of joints, congenital umbilical hernia, bilateral undescended testis and patent foramen ovale.…”
Section: Case Reportsupporting
confidence: 46%
“…According to different similar cases discussed so far in the literature, it was observed that different combinations of variety of phenotypic manifestations of the S-G syndrome noticed to be the usual presentation for this rare congenital connective tissue disorder. 2,5,8 The important clinical features observed to be associated with S-G syndrome described as follows -a) Craniosynostosis, b) Craniofacial features like dolichocephaly with or without scaphocephaly, prominent forehead, ocular proptosis, widely spaced eyes, anti-mongoloid slanting of palpebral fissure, malar hypoplasia, high narrow palate, micrognathia and/or retrognathia, broad/bifid uvula, cleft palate, apparently low-set and posteriorly rotated ears, c) Musculoskeletal findings like dolichostenomelia, arachnodactyly, camptodactyly, cervical and vertebral anomalies, pes planus, pectus excavatum or carinatum, scoliosis, joint hyper-mobility, congenital umbilical hernia, inguinal hernia, d) Cardiovascular findings like mitral valve prolapse, mitral regurgitation, aortic regurgitation, aortic root dilatation, e) Neurological anomalies in the form of delayed achievement of developmental milestones, intellectual disability, mental retardation, hydrocephalus and Chiari 1 malformation, f) and others like cryptorchidism, arterial tortuosity and aneurysms, dural ectasia etc. It could be noticed that certain clinical features like skeletal and other findings might be subtle during early childhood period due to non-weight bearing of the spine and limbs.…”
Section: Case Reportmentioning
confidence: 99%
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