A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

Ruth Day; B. Beckett; D. Donnai; A. Fryer; M. Heidenblad; P. Howard; B. Kerr; S. Mansour; U. Maye; S. Mckee; S. Mohammed; E. Sweeney; M. Tassabehji; B. B A De Vries; J. Clayton-Smith

doi:10.1111/j.1399-0004.2008.01087.x

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

Ruth Day, B. Beckett, D. Donnai, A. Fryer, M. Heidenblad, P. Howard, B. Kerr, S. Mansour, U. Maye, S. Mckee, S. Mohammed, E. Sweeney, M. Tassabehji, B. B A De Vries, J. Clayton-Smith

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Abstract

We report a series of eight patients with the Say/Barber/Biesecker/ Young-Simpson (SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We expand on the type, frequency and severity of the clinical characteristics in this condition; comment on the natural history of Ohdo syndrome and further refine previously published diagnostic criteria. Cytogenetic investigations and microarray CGH analysis undertaken in this cohort of patients failed to identify a chromosomal aetiology. It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified. © 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard.

Original language	English
Pages (from-to)	434-444
Number of pages	10
Journal	Clinical Genetics
Volume	74
Issue number	5
DOIs	https://doi.org/10.1111/j.1399-0004.2008.01087.x
Publication status	Published - 2008

Keywords

Blepharophimosis
Developmental delay
Ohdo syndrome
Young-Simpson syndrome

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Day, R., Beckett, B., Donnai, D., Fryer, A., Heidenblad, M., Howard, P., Kerr, B., Mansour, S., Maye, U., Mckee, S., Mohammed, S., Sweeney, E., Tassabehji, M., De Vries, B. B. A., & Clayton-Smith, J. (2008). A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. Clinical Genetics, 74(5), 434-444. https://doi.org/10.1111/j.1399-0004.2008.01087.x

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title = "A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome",

abstract = "We report a series of eight patients with the Say/Barber/Biesecker/ Young-Simpson (SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We expand on the type, frequency and severity of the clinical characteristics in this condition; comment on the natural history of Ohdo syndrome and further refine previously published diagnostic criteria. Cytogenetic investigations and microarray CGH analysis undertaken in this cohort of patients failed to identify a chromosomal aetiology. It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified. {\textcopyright} 2008 The Authors Journal compilation {\textcopyright} 2008 Blackwell Munksgaard.",

keywords = "Blepharophimosis, Developmental delay, Ohdo syndrome, Young-Simpson syndrome",

author = "Ruth Day and B. Beckett and D. Donnai and A. Fryer and M. Heidenblad and P. Howard and B. Kerr and S. Mansour and U. Maye and S. Mckee and S. Mohammed and E. Sweeney and M. Tassabehji and {De Vries}, {B. B A} and J. Clayton-Smith",

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Day, R, Beckett, B, Donnai, D, Fryer, A, Heidenblad, M, Howard, P, Kerr, B, Mansour, S, Maye, U, Mckee, S, Mohammed, S, Sweeney, E, Tassabehji, M, De Vries, BBA & Clayton-Smith, J 2008, 'A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome', Clinical Genetics, vol. 74, no. 5, pp. 434-444. https://doi.org/10.1111/j.1399-0004.2008.01087.x

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T1 - A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

AU - Day, Ruth

AU - Beckett, B.

AU - Donnai, D.

AU - Fryer, A.

AU - Heidenblad, M.

AU - Howard, P.

AU - Kerr, B.

AU - Mansour, S.

AU - Maye, U.

AU - Mckee, S.

AU - Mohammed, S.

AU - Sweeney, E.

AU - Tassabehji, M.

AU - De Vries, B. B A

AU - Clayton-Smith, J.

PY - 2008

Y1 - 2008

N2 - We report a series of eight patients with the Say/Barber/Biesecker/ Young-Simpson (SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We expand on the type, frequency and severity of the clinical characteristics in this condition; comment on the natural history of Ohdo syndrome and further refine previously published diagnostic criteria. Cytogenetic investigations and microarray CGH analysis undertaken in this cohort of patients failed to identify a chromosomal aetiology. It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified. © 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard.

AB - We report a series of eight patients with the Say/Barber/Biesecker/ Young-Simpson (SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We expand on the type, frequency and severity of the clinical characteristics in this condition; comment on the natural history of Ohdo syndrome and further refine previously published diagnostic criteria. Cytogenetic investigations and microarray CGH analysis undertaken in this cohort of patients failed to identify a chromosomal aetiology. It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified. © 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard.

KW - Blepharophimosis

KW - Developmental delay

KW - Ohdo syndrome

KW - Young-Simpson syndrome

U2 - 10.1111/j.1399-0004.2008.01087.x

DO - 10.1111/j.1399-0004.2008.01087.x

M3 - Article

SN - 0009-9163

VL - 74

SP - 434

EP - 444

JO - Clinical Genetics

JF - Clinical Genetics

IS - 5

ER -

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

Abstract

Keywords

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