Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

Daphne Lehalle; Charles Williams; Victoria Mok Siu; Jill Clayton-Smith

doi:10.1002/ajmg.a.34055

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

Daphne Lehalle, Charles Williams, Victoria Mok Siu, Jill Clayton-Smith

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

Abstract

Pitt-Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat-Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing. © 2011 Wiley-Liss, Inc.

Original language	English
Pages (from-to)	1685-1689
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	155
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.34055
Publication status	Published - Jul 2011

Keywords

Fetal pads
Pitt-Hopkins syndrome
Volar pads

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title = "Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome",

abstract = "Pitt-Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat-Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing. {\textcopyright} 2011 Wiley-Liss, Inc.",

keywords = "Fetal pads, Pitt-Hopkins syndrome, Volar pads",

author = "Daphne Lehalle and Charles Williams and Siu, {Victoria Mok} and Jill Clayton-Smith",

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T1 - Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

AU - Lehalle, Daphne

AU - Williams, Charles

AU - Siu, Victoria Mok

AU - Clayton-Smith, Jill

PY - 2011/7

Y1 - 2011/7

N2 - Pitt-Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat-Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing. © 2011 Wiley-Liss, Inc.

AB - Pitt-Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat-Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing. © 2011 Wiley-Liss, Inc.

KW - Fetal pads

KW - Pitt-Hopkins syndrome

KW - Volar pads

U2 - 10.1002/ajmg.a.34055

DO - 10.1002/ajmg.a.34055

M3 - Article

SN - 1552-4825

VL - 155

SP - 1685

EP - 1689

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 7

ER -

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

Abstract

Keywords

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