Ocular hypotelorism, submucosal cleft palate, and hypospadias: A new autosomal dominant syndrome

Schilbach, U.; Rott, Hans‐Dieter; Neri, Giovanni; Reynolds, James F.

doi:10.1002/ajmg.1320310420

Cited by 12 publications

(17 citation statements)

References 4 publications

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“…However, there remain few documentations on the facial aspect of HNA patients and almost no reports on affected individuals from early childhood (4,6,16). However, the association with hypospadias and mental retardation places SRS into a different syndrome category (17,18). In the present report, these diagnostic difficulties actually led to incorrect diagnoses in both the proband [(pseudo) trisomy 13 and BPES] and his sister (pronatio dolorosa, epiphysiolysis of the capitellum humeri, and HNPP).…”

Section: Discussionmentioning

confidence: 64%

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study

et al. 2008

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We report a family in which two siblings presented with an apparent dysmorphic syndrome, including hypotelorism, blepharophimosis, slight ptosis, epicanthal folds, microstomia and dysmorphic ears. One sibling had a cleft palate. Initially, blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) was suspected; however, mutation of the FOXL2 gene was not detected. Moreover, the patients' father and paternal grandmother had experienced recurrent episodes of unilateral brachial neuritis and were diagnosed to have hereditary neuralgic amyotrophy (HNA). HNA is a rare, inherited form of brachial neuritis whose phenotypic spectrum may include hypotelorism, cleft palate and other minor dysmorphisms. HNA maps to chromosome 17q25 and is associated with mutations in the SEPT9 gene. After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack. Both children were shown to have inherited the paternal SEPT9 mutation. Wider recognition of HNA as a syndromic disorder may facilitate its diagnosis in affected young persons who may not yet have manifested episodes of brachial neuritis.

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Section: Discussionmentioning

confidence: 64%

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study

et al. 2008

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“…However, high resolution banding in both of our patients did not detect any chromosomal aberrations. Neither did they have any of the dominantly inherited syndromes with blepharophimosis such as Simosa syndrome [Simosa et al, 1989;Suri et al, 1994] or the syndromes reported by Schillbach and Rott [1988], Richieri-Costa et al [1993], or by Wittebol-Post and Hennekam [1993]. Cunniff et al [1998] reported on 22 patients with blepharophimosis; 14 of these had the BPES syndrome; one had brachio-oto-renal syndrome, and one had a ring 4 chromosome.…”

Section: Discussionmentioning

confidence: 95%

“…Reports of syndromes with autosomal dominant or presumed autosomal dominant inheritance comprising blepharophimosis abound in the literature [Zlotogora et al, 1983;Schillbach and Rott, 1988;Simosa et al, 1989;Jewett et al, 1993;Richeri-Costa et al, 1993;Wittebol-Post and Hennekam, 1993;Suri et al, 1994;Maw et al, 1996;Costa et al, 1998]. …”

Section: Introductionmentioning

confidence: 99%

Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: Report of two sibs with a unique syndrome

Nowaczyk¹,

Sutcliffe²

1999

Am. J. Med. Genet.

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We report on two sibs, a 2.5-year-old girl and a 10-month-old boy, with a hitherto unreported combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The occurrence of a similar pattern of anomalies in two sibs of opposite sex suggests autosomal recessive inheritance. To our knowledge, this combination of anomalies has not been reported previously, and thus we propose it to be a formal genesis syndrome.

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“…Varying degrees of cleft palate, epicanthal folds, blepharophimosis, asymmetric facies, abnormal ears, short stature, microcephaly, hypospadias, syndactylies and mild mental retardation have also been described (Table I). The original family described by Schilbach and Rott consisted of 10 individuals in five generations with syndromal hypospadias [Schilbach and Rott, 1988]. Richieri‐Costa et al 1993 reported on a mother and a daughter with similar facial anomalies but normal intelligence.…”

Section: Discussionmentioning

confidence: 99%

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome

Shkalim

Baris

Gal

et al. 2009

American J of Med Genetics Pt A

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We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high-arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of genetic studies were normal including FISH for deletion of 22q11, karyotype analysis, fragile X testing, high-resolution comparative genomic hybridization and SEPT9, SHH mutation analysis. The syndrome is reminiscent of the infrequently recognized autosomal dominant Schilbach-Rott syndrome.

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Ocular hypotelorism, submucosal cleft palate, and hypospadias: A new autosomal dominant syndrome

Cited by 12 publications

References 4 publications

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study

Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: Report of two sibs with a unique syndrome

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome

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