Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion Syndrome

Rittinger, Olaf; Weiss-Wichert, P; Hasenöhrl, G.

doi:10.1097/00019605-199910000-00011

Cited by 12 publications

(8 citation statements)

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“…characteristic of SGS (Al-Mudaffer et al, 2008). We surveyed reported cases of SGS, with and without molecular confirmation, for neuroradiological features; these are summarized in Table 1 (Rittiner et al, 1999;Sandri et al, 2003;Sharma and Gonzales, 2009;Hennekam et al, 2010;Hoischen et al, 2010;Suphapeetiporn et al, 2011). The clinical features and disease progression in this case are similar to those described previously.…”

Section: Discussionsupporting

confidence: 71%

Unusual neuroradiological features in Schinzel–Giedion syndrome

Lestner

Chong

Offiiah

et al. 2012

Clinical Dysmorphology

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Section: Discussionsupporting

confidence: 71%

Unusual neuroradiological features in Schinzel–Giedion syndrome

Lestner

Chong

Offiiah

et al. 2012

Clinical Dysmorphology

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“… * Adapted and updated from Elliott et al, 1996 and the following articles: Schinzel and Giedion, 1978; Schinzel, 1982; Maclennan et al, 1991; Robin et al, 1993; Verloes et al, 1993; Labrune et al, 1994; Rodriguez et al, 1994; Santos et al, 1994; Antich et al, 1995; Culic et al, 1996; Ozkinaay et al, 1996; McPherson et al, 1998; Alembik et al, 1999; Rittinger et al, 1999; Shah et al, 1999. …”

Section: Discussionmentioning

confidence: 99%

Further clinical and sensorial delineation of Schinzel‐Giedion syndrome: Report of two cases

et al. 2002

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Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning-fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria.

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“…More complex malformations have also been reported: abnormal cortical gyration [Schinzel and Giedion, 1978], bilateral incomplete frontal‐parietal opercula with perisylvian polymicrogyria [Beschorner et al, 2007], and small basal ganglia, caudate, and internal capsule [Robin et al, 1993]. Malformations of the posterior fossa, including Chiari I malformation, have been described [Santos et al, 1994; Silengo et al, 1997; Rittinger et al, 1999]. Central diabetes insipidus and central hypothyroidism have been reported in one patient, in the context of an abnormal posterior fossa with stretching of the pituitary stalk [Santos et al, 1994].…”

Section: Literature Reviewmentioning

confidence: 99%

“…1 1 The following case reports (involving 45 patients in total) were reviewed to determine frequencies of abnormalities: Alavi et al 1994, Albano et al 2004, al‐Gazali et al 1990, Alembik et al 1999, Antich et al 1995, Beschorner et al 2007, Burck 1982, Cooke et al 2002, Culic et al 1996, Donnai and Harris 1979, Elliott et al 1996, Grosso et al 2003, Hayashi et al 2007, Herman et al 1993, Kelley et al 1982, Kondoh et al 2001, Labrune et al 1994, Maclennan et al 1991, Manouvrier et al 1996, McPherson et al 1998, Minn et al 2002, Okamoto et al 1995 (also reported in Matsumoto et al 2005), Ozkinay et al 1996, Pul et al 1990, Rittinger et al 1999, Robin et al 1993, Rodriguez et al 1994, Saal et al 1989, Sandri et al 2003 (also reported in Silengo et al 1997), Santos et al 1994, Schinzel and Giedion 1978, Shah et al 1999, Touge et al 2001, and Verloes et al 1993. …”

mentioning

confidence: 95%

Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria

Lehman

McFadden

Pugash

et al. 2008

American J of Med Genetics Pt A

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We report on the 46th patient with Schinzel-Giedion syndrome (SGS) and the first observation of splenopancreatic fusion in this syndrome. In the antenatal period, a male fetus was found to have bilateral hydronephrosis. Postnatally, in keeping with a diagnosis of SGS, there were large fontanelles, ocular hypertelorism, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck. Other anomalies included cardiac defects, widened and dense long bone cortices, cerebral ventriculomegaly, and abnormal fundi. Splenopancreatic fusion, usually encountered in trisomy 13, was found on autopsy. Schinzel-Giedion syndrome is likely a monogenic condition for which neither the heritability pattern nor pathogenesis has yet been determined. A clinical diagnosis may be made by identifying the facial phenotype, including prominent forehead, midface retraction, and short, upturned nose, plus one of either of the two other major distinguishing features: typical skeletal abnormalities or hydronephrosis. Typical skeletal anomalies include a sclerotic skull base, wide supraoccipital-exoccipital synchondrosis, increased cortical density or thickness, and broad ribs. Other highly supportive features include neuroepithelial tumors (found in 17%), hypertrichosis, and brain abnormalities. Severe developmental delay and poor survival are constant features in reported patients.

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Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion Syndrome

Cited by 12 publications

References 0 publications

Unusual neuroradiological features in Schinzel–Giedion syndrome

Unusual neuroradiological features in Schinzel–Giedion syndrome

Further clinical and sensorial delineation of Schinzel‐Giedion syndrome: Report of two cases

Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria

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