Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis
Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes.
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Faculdade de Medicina / Universidade de São Paulo - FM/USP
2004
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oai:scielo:S0041-878120040002000082004-04-23Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosisAlbano,Lilian Maria JoséSakae,Paula Priscila OharaMataloun,Marta Maria Galli BozzoLeone,Clea RodriguesBertola,Débora R.Kim,Chong Ae Schinzel-Giedion syndrome Hydronephrosis Midface hypoplasia Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes.info:eu-repo/semantics/openAccessFaculdade de Medicina / Universidade de São Paulo - FM/USPRevista do Hospital das Clínicas v.59 n.2 20042004-01-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812004000200008en10.1590/S0041-87812004000200008 |
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Albano,Lilian Maria José Sakae,Paula Priscila Ohara Mataloun,Marta Maria Galli Bozzo Leone,Clea Rodrigues Bertola,Débora R. Kim,Chong Ae |
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Albano,Lilian Maria José Sakae,Paula Priscila Ohara Mataloun,Marta Maria Galli Bozzo Leone,Clea Rodrigues Bertola,Débora R. Kim,Chong Ae Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis |
author_facet |
Albano,Lilian Maria José Sakae,Paula Priscila Ohara Mataloun,Marta Maria Galli Bozzo Leone,Clea Rodrigues Bertola,Débora R. Kim,Chong Ae |
author_sort |
Albano,Lilian Maria José |
title |
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis |
title_short |
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis |
title_full |
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis |
title_fullStr |
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis |
title_full_unstemmed |
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis |
title_sort |
hydronephrosis in schinzel-giedion syndrome: an important clue for the diagnosis |
description |
Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes. |
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Faculdade de Medicina / Universidade de São Paulo - FM/USP |
publishDate |
2004 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812004000200008 |
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