Abnormal modelling of the humeral head in the tricho-rhino-phalangeal syndrome: a new radiological observation.
The case of a 27-year-old female patient with tricho-rhino-phalangeal (TRP) type I syndrome is reported. The patient demonstrated the classical features of slowly growing hair, a bulbous nose and brachydactyly with swelling at the interphalangeal joints, but in addition showed some of the less common manifestations such as supernumerary teeth and prognathism. To the authors' knowledge this is the first reported case in which modelling abnormalities of the proximal humerus mirror those seen in the femoral head. This adds weight to the argument that the skeletal abnormalities in TRP are part of a generalized bone dysplasia.
Paterson
A
A
Royal Belfast Hospital for Sick Children, Northern Ireland, UK. anne.paterson@royalhospitals.n-i.nhs.uk
Thomas
P S
PS
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D015826:Langer-Giedion Syndrome / Q000000981:diagnostic imaging*; D011859:Radiography