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Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. Bertola; Chong Ae Kim. 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.

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Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. Bertola; Chong Ae Kim. 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.

Key words: Schinzel-Giedion syndrome. Midface hypoplasia. Schinzel-Giedion syndrome SGS , first described in , is a rare syndrome characterized by midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Some authors believe that if the syndrome identification were indexed as a cause of congenital hydronephrosis, its diagnosis would be considerably facilitated 1. In order to reinforce this opinion and the phenotypic spectrum of the syndrome, we resolved to report another case: the first Brazilian SGS patient.

To date, more than 30 cases have been reported in the literature. We report a newborn female infant with bilateral hydronephrosis Fig. There was no parental consanguinity nor family history of congenital abnormalities. Bilateral hydronephrosis was detected during pregnancy by ultrasonography. She presented generalized hypertrichosis, coarse facies with prominent forehead, widely patent fontanels and sutures, short and "squared" nose with anteverted nares and depressed bridge, ears apparently low-set and posteriorly rotated with folded helices, prominent eyes with a deep groove underneath, thin lips, supernumerary nipples, "apparent" shortening of the arms with an accessory crease, bilateral simian palmar creases, large thumbs and great toes laterally deviated , hypoplastic nails especially in the fingers, and an anteriorly placed anus.

Cardiac evaluation revealed interatrial communication, patent ductus arteriosus, pulmonary stenosis and atresia, hypoplasia of the right ventricle, and moderate mitral valve insufficiency. Abdominal ultrasonography confirmed the bilateral hydronephrosis detected in utero Fig. In the x-ray skeletal survey, we noticed wide cranial sutures, sclerosis of the basal and mid-fossa brain bones, wormian occipital bones, and wide occipital synchondrosis.

The ribs, clavicles, pelvis, vertebral column, and long bones were unremarkable. Centers of ossification in the knee were not observed. Chromosomal analysis was normal Giemsa banding. The clinical course was complicated by pulmonary hypertension and heart failure, and the patient died at the age of 3 months. Unfortunately, an autopsy could not be performed. The phenotypic characterization of SGS includes a coarse midface retraction, a prominent forehead, and an enlarged and protuberant tongue.

These craniofacial abnormalities sometimes resemble a storage or metabolic disease, but patients with SGS do not have a biochemical abnormality 1,2. Hirsutism disappears and midface retraction becomes less evident with age; In contrast, bitemporal narrowing becomes more evident 3. In addition, radiological findings with a specific skeletal dysplasia and the presence of bilateral hydronephrosis strengthened the diagnosis of SGS.

Hydronephrosis is only occasionally reported as a feature of a malformation syndrome, such as Johansson-Blizzard syndrome, trisomy 13 and 18, Turner syndrome, triploidy, and Ochoa syndrome 1. Of the 35 SGS cases reviewed by Touge et al. Kelley et al. We also observed the renal anomaly in our patient and agree with the authors that the majority of the findings of this syndrome except hydronephrosis are nonspecific and common to many genetic syndromes Table 1.

Since the gene of the disease has not yet been identified and diagnosis is strictly based on clinical findings, the presence of hydronephrosis assumes an important role for the diagnosis of SGS. Despite the lack of identification of any biochemical abnormality so far, Shah et al.

Some authors have described sacral tumors associated with this syndrome, and McPherson et al. Therefore, additional patients should be reported in order to amplify the phenotypic spectrum of SGS. Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.

J Pediatr ; The Schinzel-Giedion syndrome. J Med Genet ; Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. Am J Med Genet ; Further clinical and sensorial delineation of Schinzel-Giedion Syndrome: report of two cases. Schinzel-Giedion syndrome. Intern J Urol ; Schinzel-Giedion syndrome: evidence for a neurodegenerative process.

Sacral tumors in Schinzel-Giedion syndrome. Three new cases of the Schinzel-Giedion syndrome and review of the literature. Schinzel-Giedion syndrome: report of two sibs. Clin Genet ; Clin Dysmorphol All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Services on Demand Journal. How to cite this article.

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Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Mean follow-up was 35 months 12 to One patient had only urinary tract infection and two lower urinary tract symptoms without infections. Initial treatment consisted of clean intermittent catheterization with anticholinergics for all patients.

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Harvard Electricity Policy Group. However, prognosis and life expectancy of this generally fatal disease remains poor. MMIHS has been suggested to have an autosomal recessive inheritance pattern so genetic counseling remains difficult, to date. Clin Genet ; Embed or link this publication.

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HIDRONEFROSE BILATERAL PDF

A nuclear medicine diuretic renogram may be performed to assess for obstruction of urine and differentiate from other causes such as an extra-renal pelvis or parapelvic cysts. The radiologist may also play a part in procedures to treat the harmful effects of uncorrected hydronephrosis on renal function, such as placement of a percutaneous nephrostomy tube or antegrade ureteric stent insertion. Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Updating… Please wait.

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