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.
authors.affiliation: Manchester Biomedical Research Centre, MAHSC, St Mary's Hospital, UK. daphnelehalle@yahoo.fr
authors.forename: Daphne
authors.initials: D
authors.lastname: Lehalle
authors.forename: Charles
authors.initials: C
authors.lastname: Williams
authors.forename: Victoria Mok
authors.initials: VM
authors.lastname: Siu
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
mesh_terms: D000293:Adolescent; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D005385:Fingers / Q000473:pathology*; D006801:Humans; D006985:Hyperventilation / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D014034:Toes / Q000473:pathology*; D000073940:Transcription Factor 4; D014157:Transcription Factors / Q000235:genetics
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C532096:TCF4 protein, human; D000073940:Transcription Factor 4; D014157:Transcription Factors