Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome

V Shkalim; HN Baris; G Gal; R Gleiss; S Calderon; Marja Wessels; JA Maat-Kievit; B Menten; E De Baere; RCM Hennekam; A Schirmacher; S Bale; M Shohat; PJ Willems

doi:10.1002/ajmg.a.33095

Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome

V Shkalim, HN Baris, G Gal, R Gleiss, S Calderon, Marja Wessels, JA Maat-Kievit, B Menten, E De Baere, RCM Hennekam, A Schirmacher, S Bale, M Shohat, PJ Willems

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

6 Citations (Scopus)

Abstract

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. (C) 2009 Wiley-Liss, Inc.

Original language	Undefined/Unknown
Pages (from-to)	2700-2705
Number of pages	6
Journal	American Journal of Medical Genetics Part A
Volume	149A
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.33095
Publication status	Published - 2009

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EMC MGC-02-96-01

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10.1002/ajmg.a.33095

http://hdl.handle.net/1765/24057

Cite this

Shkalim, V., Baris, HN., Gal, G., Gleiss, R., Calderon, S., Wessels, M., Maat-Kievit, JA., Menten, B., De Baere, E., Hennekam, RCM., Schirmacher, A., Bale, S., Shohat, M., & Willems, PJ. (2009). Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome. American Journal of Medical Genetics Part A, 149A(12), 2700-2705. https://doi.org/10.1002/ajmg.a.33095

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title = "Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome",

abstract = "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. (C) 2009 Wiley-Liss, Inc.",

author = "V Shkalim and HN Baris and G Gal and R Gleiss and S Calderon and Marja Wessels and JA Maat-Kievit and B Menten and {De Baere}, E and RCM Hennekam and A Schirmacher and S Bale and M Shohat and PJ Willems",

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doi = "10.1002/ajmg.a.33095",

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Shkalim, V, Baris, HN, Gal, G, Gleiss, R, Calderon, S, Wessels, M, Maat-Kievit, JA, Menten, B, De Baere, E, Hennekam, RCM, Schirmacher, A, Bale, S, Shohat, M & Willems, PJ 2009, 'Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome', American Journal of Medical Genetics Part A, vol. 149A, no. 12, pp. 2700-2705. https://doi.org/10.1002/ajmg.a.33095

TY - JOUR

T1 - Autosomal Dominant Syndrome of Mental Retardation, Hypotelorism, and Cleft Palate Resembling Schilbach-Rott Syndrome

AU - Shkalim, V

AU - Baris, HN

AU - Gal, G

AU - Gleiss, R

AU - Calderon, S

AU - Wessels, Marja

AU - Maat-Kievit, JA

AU - Menten, B

AU - De Baere, E

AU - Hennekam, RCM

AU - Schirmacher, A

AU - Bale, S

AU - Shohat, M

AU - Willems, PJ

PY - 2009

Y1 - 2009

N2 - 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. (C) 2009 Wiley-Liss, Inc.

AB - 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. (C) 2009 Wiley-Liss, Inc.

U2 - 10.1002/ajmg.a.33095

DO - 10.1002/ajmg.a.33095

M3 - Article

C2 - 19921646

SN - 1552-4825

VL - 149A

SP - 2700

EP - 2705

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 12

ER -