[The tricho-rhino-phalangeal syndrome (Giedion) (author's transl)].
We describe here six members of a family with Giedion's syndrome: sparse, fine, slow-growing hair, pear-shaped nose, cone-shaped epiphyses of the middle phalanges and variable growth retardation. There are other signs: elongated philtrum, thin upper lip, big and low set ears, medially broad eyebrows but narrow at the tip, clinobrachydactyly and marked dental caries, are as well observed in those patients. Differential diagnosis with other dysplasias is pointed out and both histological and trichological data are being valued.
D000328:Adult; D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome
Le syndrome tricho-rhino-phalangien (Giedion).