Shprintzen-Goldberg Syndrome With Tetralogy of Fallot and Subvalvar Aortic Stenosis

Pauliks, Linda B.; Chan, Kak‐Chen; Lorts, Angela; Elias, Ellen Roy; Cayre, Raul O.; Valdes‐Cruz, Lilliam M.

doi:10.7863/jum.2005.24.5.703

Cited by 7 publications

(8 citation statements)

References 14 publications

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“…In addition to a meticulous clinical examination, a high degree of suspicion is critical in corroborating the clinical and imaging findings to that of a classical case described by Greally et al 27 Pauliks et al 25 reported the first case of complex congenital heart disease in a neonate with Shprintzen-Goldberg syndrome. Likewise, Elmistekawy et al 28 descibed the first double valve surgery in a patient with Shprintzen-Goldberg syndrome that presented with increasingly severe mitral regurgitation due to bileaflet prolapse, and tricuspid valve regurgitation.…”

Section: Discussionmentioning

confidence: 94%

Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child

Shah¹,

Sahu²,

Kalakoti³

et al. 2014

AMJ

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Section: Discussionmentioning

confidence: 94%

Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child

Shah¹,

Sahu²,

Kalakoti³

et al. 2014

AMJ

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“…In addition to a meticulous clinical examination, a high degree of suspicion is critical in corroborating the clinical and imaging findings to that of a classical case described by Greally 27 Pauliks et al 25 reported the first case of complex congenital heart disease in a neonate with Shprintzen-Goldberg syndrome. Likewise, Elmistekawy et al 28 descibed the first double valve surgery in a patient with Shprintzen-Goldberg syndrome that presented with increasingly severe mitral regurgitation due to bileaflet prolapse, and tricuspid valve regurgitation.…”

Section: Discussionmentioning

confidence: 86%

Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child

Shah

Sahu

Kalakoti

et al. 2014

AMJ

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Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. We herein present a case of a five-year-old Indian child who presented to our clinic with reducible umbilical hernia since birth, mental retardation, and delayed developmental milestones. After meticulous clinical examination with subsequent integration of clinical findings and investigations, we diagnosed her to possibly have Shprintzen-Goldberg syndrome. An attempt to compare the findings of our index case with the classical features as described by Greally et al. has been made. Given the rarity of this syndrome and the paucity of medical literature measuring the magnitude of this condition in the Indian population, this case serves to promote awareness of this rare entity.

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“…9 Germline mosaicism with mutations in 3 genomic loci have been linked to SGS, thereby making it a molecularly heterogeneous disorder. 10 The 4 th region (15q25-qter) is also considered to be the cause of this syndrome. 11 Most investigators believe that multiple genes are responsible for a single phenotype.…”

Section: Discussionmentioning

confidence: 99%

Shprintzen–Goldberg syndrome with plagiocephaly: A case report

Hambire

2019

Dent. Med. Probl.

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The Shprintzen-Goldberg syndrome (SGS) is an autosomal dominant disorder with multiple congenital abnormalities. It is the result of de novo gene mutations. Recently, mutations in the SKI gene are considered to be related to this syndrome. This gene is responsible for the manufacturing of protein which regulates the transforming growth factor beta (TGF-β) signaling pathway. There are characteristic craniofacial, skeletal, neurological, and connective tissue abnormalities associated with SGS. This is a case report of a 6-year-old male child who reported to the Department of Pediatric Dentistry at the Government Dental College and Hospital, Aurangabad, India, with decayed teeth. He had craniofacial, skeletal, cardiovascular, and other abnormalities suggestive of SGS. The patient had a tall forehead with plagiocephaly and a high-arched palate with hypoplastic teeth. His ears were apparently low-set with posterior rotation. The child had eyes with proptosis, myopia, hypertelorism, and down-slanting palpebral fissures. The child had moderate mental retardation with craniofacial features typical of this syndrome. The Shprintzen-Goldberg syndrome has many similarities with the Marfan syndrome (MFS) or the Loeys-Dietz syndrome (LDS) due to considerable phenotypic overlapping.

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Shprintzen-Goldberg Syndrome With Tetralogy of Fallot and Subvalvar Aortic Stenosis

Cited by 7 publications

References 14 publications

Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child

Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child

Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child

Shprintzen–Goldberg syndrome with plagiocephaly: A case report

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