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Tricho-rhino-phalangeal syndrome
- Source :
- Australasian radiology. 16(4)
- Publication Year :
- 1972
-
Abstract
- Summary Two cases of tricho-rhino-phalangeal syndrome are described. This syndrome is one of the well differentiated diseases in the subgroup of peripheral dysostoses. Our cases conform with the condition as reported by Klingmueller and Giedion. The features which help to identify this entity are (I) peculiar facies (2) sparse hair (3) hand and feet deformities (4) usually some shortening of stature. Two additional clinical findings are stressed–bat ears and mental retardation. The importance of radiographic differentiation from other diseases with peripheral ossification disturbances and peripheral dysostoses syndromes, and specifically Thiemann's disease, is stressed.
- Subjects :
- Male
medicine.medical_specialty
Adolescent
Peculiar facies
Disease
Nose
Diagnosis, Differential
Fingers
Intellectual Disability
Medicine
Tricho–rhino–phalangeal syndrome
Humans
Radiology, Nuclear Medicine and imaging
Abnormalities, Multiple
Sparse hair
Ear, External
Child
Bone Diseases, Developmental
business.industry
Ossification
Anatomy
Syndrome
Toes
medicine.disease
Dysostoses
Dermatology
Well differentiated
Facial Expression
Face
Female
medicine.symptom
Differential diagnosis
business
Hair
Subjects
Details
- ISSN :
- 00048461
- Volume :
- 16
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Australasian radiology
- Accession number :
- edsair.doi.dedup.....0ea8a9200211037f24bc83259e80d278