Trichorhinophalangeal syndrome type III.
Trichorhinophalangeal syndrome (TRPS) type III is a newly defined clinical entity. This symptom complex is inherited as an autosomal dominant trait and clinically characterized by growth retardation, craniofacial abnormalities, severe brachydactyly and sparse hair. In addition, absence of mental retardation and cartilaginous exostoses are required for the diagnosis of TRPS III. To further delineate this newly recognized entity, we report on a patient from a Turkish family segregating TRPS III in 7 family members. The patient had a very short stature (147 cm, < 3rd standard deviation), a thin upper lip and a prominent lower lip, a pear-shaped nose, stubby fingers and toes with cone-shaped epiphyses and sparse scalp hair. Scanning electron microscopy findings and results of energy-dispersive X-ray microanalysis are presented in such a patient for the first time.
Itin
P H
PH
Department of Dermatology, University of Basel, Switzerland.
Bohn
S
S
Mathys
D
D
Guggenheim
R
R
Richard
G
G
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome