title: Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.
abstract: 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.
authors.affiliation: Clinical Genetic Unit, Children's Institute, Hospital das Clínicas, Faculty of Medicine, University of São Paulo--São Paulo/SP, Brazil.
authors.forename: Lilian Maria José
authors.initials: LM
authors.lastname: Albano
authors.forename: Paula Priscila Ohara
authors.initials: PP
authors.lastname: Sakae
authors.forename: Marta Maria Galli Bozzo
authors.initials: MM
authors.lastname: Mataloun
authors.forename: Clea Rodrigues
authors.initials: CR
authors.lastname: Leone
authors.forename: Débora R
authors.initials: DR
authors.lastname: Bertola
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D005145:Face / Q000002:abnormalities; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital* / Q000235:genetics; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D013577:Syndrome