A patient with Schinzel-Giedion syndrome and a review of 20 patients

Okamoto, Nobuhiko; Takeuchi, Muneyuki; Kohno, Hiroyuki; Hosokawa, Shozo

doi:10.1007/bf01883576

Cited by 17 publications

(14 citation statements)

References 10 publications

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“…Features observed in our patient, such as prominent eyes, epicanthus folds, long earlobe, short upturned nose, hypertrichosis, and synophrys, were also reported by Okamoto et al in their two Japanese patients ( Table I). 3 Otopalatodigital syndrome type II should also be ruled out when hydronephrosis, microcephaly, cleft palate, and small mouth are present in a patient who also has severe digital involvement. Among the unique findings seen in our patient it is worth mentioning the severe anal stenosis.…”

Section: Discussionmentioning

confidence: 99%

Okamoto syndrome in a girl of Caucasian origin

Markouri¹,

Karpathios²,

Dinopoulos³

et al. 2008

Develop Med Child Neuro

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We report the clinical and genetic evaluation of a 2-year-old Greek female with striking phenotypic similarities to the three previously published cases of Okamoto syndrome. The main features were characteristic facies, cleft palate, generalized hypotonia, severe developmental delay, congenital hydronephrosis, and congenital heart defects. Routine chromosome testing and whole-genome high-resolution comparative genetic hybridization analysis were negative for any gross numerical or structural chromosome aberrations and for microdeletions/duplications of more than 3 million base pairs respectively. Fluorescence in situ hybridization analysis for 22q11.2 deletion and DNA analysis of the protein tyrosine phosphatase, non-receptor type II gene were normal, thus excluding DiGeorge and Noonan syndromes. Our patient did not show most of the cardinal features of Schinzel-Giedion, otopalatodigital, and C-trigonocephaly syndromes. Moreover, in our patient some new malformations were identified: unilateral kidney hypoplasia and severe anal stenosis. The latter was considered as pertinent and is described here to establish a wider clinical spectrum of Okamoto syndrome. At the age of 3 years 6 months the child continues to show severe growth failure and significant global developmental delay. For the practising paediatrician it is prudent to bear Okamoto syndrome in mind, especially in children with learning disability and a pattern of dysmorphic features.

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Section: Discussionmentioning

confidence: 99%

Okamoto syndrome in a girl of Caucasian origin

Markouri¹,

Karpathios²,

Dinopoulos³

et al. 2008

Develop Med Child Neuro

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“…Obstructive disorders of the upper digestive tract such as esophageal atresia and duodenal atresia may cause polyhydramnios, as might neuromuscular disorders that cause impaired swallowing of amniotic fluid. After birth, hydronephrosis was observed in 14 of 16 SGS cases reviewed by Labrune et al and all 10 of the cases described by Okamoto et al . Prenatal ultrasonography thus predicted hydronephrosis in six of the nine fetuses for which findings have been reported.…”

Section: Discussionmentioning

confidence: 73%

“…Prior to delivery, polyhydramnios was noted with Patient 1. Among nine SGS patients for whom prenatal findings were reported, polyhydramnios was observed in two and fetal hydronephrosis in six . Polyhydramnios is caused by excess production of amniotic fluid or poor swallowing of amniotic fluid by the fetus.…”

Section: Discussionmentioning

confidence: 99%

“…Schinzel–Giedion midface retraction syndrome (SGS; MIM%269150) is a recognizable malformation syndrome characterized by severe psychomotor retardation, seizures, distinctive facial features, and multiple congenital anomalies in the cardiac, genitourinary, renal, skeletal, and central nervous systems. The highly characteristic facial appearance consists of high, prominent forehead, low nasal root, ocular hypertelorism, midface hypoplasia, and low‐set ears . A higher risk of embryonal tumors, particularly malignant sacrococcygeal teratoma, has been noted in patients with this syndrome in comparison with the normal population .…”

Section: Introductionmentioning

confidence: 99%

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Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome

Hishimura

Watari

Ohata

et al. 2016

Clinical Case Reports

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“…1 Table 1 shows a summary of 36 cases, including the present case, with Schinzel-Giedion syndrome. [1][2][3][4][5][6][7][8] There are no diagnostic findings for Schinzel-Giedion syndrome, such as gene abnormalities. However, there are some common findings, such as (i) normal intrauterine growth and period of gestation; (ii) severe intellectual disability and low physical growth after birth; (iii) midfacial hypoplasia with coarse appearance and deep grooves under the eyes; (iv) epilepsy and spasms; and (v) hydronephrosis and genital anomalies.…”

Section: Discussionmentioning

confidence: 99%

Schinzel–Giedion syndrome

et al. 2001

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A 2-month-old girl was brought to the Department of Pediatrics at Wakayama Rosai Hospital because of poor feeding since 1 month of age. She was the third child of young healthy nonconsanguineous parents whose first son was healthy but whose second son had died of 18 trisomy. Physical examination showed midfacial hypoplasia with coarse dysmorphic features, choanal stenosis, remarkable abdominal distention and bilateral talipes equivarus. Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephrosis. Having diagnosed Schinzel-Giedion syndrome, a left ureteroneocystostomy with tailoring was performed to preserve renal functions and to eliminate the urinary tract infection at the age of 3 months.

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A patient with Schinzel-Giedion syndrome and a review of 20 patients

Cited by 17 publications

References 10 publications

Okamoto syndrome in a girl of Caucasian origin

Okamoto syndrome in a girl of Caucasian origin

Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome

Schinzel–Giedion syndrome

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