[Trichorhinophalangeal syndrome. Apropos of a case].
The trichorhinopharyngeal (TRP) syndrome type I (Giedion, 1966) is characterized clinically by craniofacial dysmorphism with sparse hair, pear-shaped nose and long philtrum, and abnormalities of the extremities (disabling deformities of the hands and feet). The diagnosis is confirmed by the finding, at radiology, of cone-shaped epiphyses at the base of the middle phalanges. The discovery of patients presenting with other clinical and radiological abnormalities (growth retardation, microcephaly, mental retardation, multiple exostoses) has led to the individualization of a type II syndrome (Langer-Giedion, 1969). We report here a new case of TRP type I and review current data concerning the syndrome, notably the clinical and genetic differences between types I and II. Our case concerned a 43-year-old female patient who consulted for sparse, fine, brittle and very unaesthetic hair obliging her to wear a wig permanently. Examination disclosed other morphological abnormalities, including disabling deformities of the extremities (clinobrachydactyly of the hands and feet which had been present since the age of 6-7 years) and peculiar facial features with a globulous, pear-shaped nose and a long philtrum. She was of small size and had no mental retardation. These clinical symptoms and the finding of cone-shaped epiphyses (type 12) at the base of the middle phalanges led to affirm diagnosis of TRP type I. The case appeared to be solitary. The TRP syndrome was individualized by Giedion in 1966. It is usually detected during the later childhood. In 1969, Langer and Gorlin reported similar features in patients who, in addition, presented with multiple exostoses (hands and feet and body skeleton).(ABSTRACT TRUNCATED AT 250 WORDS)
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D017880:Limb Deformities, Congenital; D013577:Syndrome
Syndrome trichorhinophalangien. A propos d'une observation.