Abstract for presentation at 11th International Congress of Human Genetics

Trichorhinophalangeal Syndrome, Type III (TRP III): A familiy case report

  • Victor Anguiano-Alvarez, Instituto de Genética Humana, CUCS, Universidad de Guadalajara., Mexico
  • Dr Ricardo EVega, Instituto de Genética Humana, CUCS, Universidad de Guadalajara., Mexico
  • Dr Maria Lopez-Cardona, Instituto de Genética Humana, CUCS, Universidad de Guadalajara., Mexico
  • Dr Azucena Del Toro-Valero, Instituto de Genética Humana, CUCS, Universidad de Guadalajara., Mexico
  • Alberto Garcia- Avila, Instituto de Genética Humana, CUCS, Universidad de Guadalajara., Mexico
  • Dr A Bolaños, Hospital Valentin Gomez Farias, Servicio de Ortopedia, ISSSTE. Guadalajara, Jalisco., Mexico
  • Dr Nory Davalos, Instituto de Genética Humana, CUCS, Universidad de Guadalajara., Mexico

    • The Trichorhinopalangeal syndrome (TRP) is characterized by face and skeletal alterations in a heritance autosomal dominant. The affected patients by the TRP type I (OMIM #190350) showed short stature, alopecia, prominent ears, bulbous nose, hypoplasic alas nasis, prominent elongated philtrum, micrognatia, winged scapulae, brachymetacarpalism, brachymetatarsalism, brachydactyly, cone-shaped epiphyses of phalanges, osteoarthrosis and mental retardation. The TRP II (OMIM#150230) presents multiple exostoses, mycrocephaly and skin nevi. The TRP III (OMIM#190351) showed severe short stature, brachymetacarpalism and brachydactyly, osteochondritis of lumbar vertebrae and normal intelligence. We describe a 25 years-old female, the proposita’s family date evidenced her father, grandmother and two brothers are affected. At physical examination present short stature, thin hair and alopecia, hemifacial hypoplasia, down oblique palpebral fissures, third distal eyebrow alopecia, hypoplasic alas nasis, bulbous nose, cubitus valgus. In Hands: brachydactyly of the 2nd and 4th phalanges, bilateral clinodactyly, broad thumb and hypoplasic nails. In feet 2nd phalange absence in 2nd left toe, brachydactyly and hypoplasic nails. In the skin, one left palmary pigmented nevi (0.5 X 0.3 cm) and two pigmented nevis (0.2 X 0.2 cm) in right palmary region. In this case we found a characteristic nevis of TRP type II, but without exostoses. Also the patient had normal intelligence, severe short stature and brachymetacarpalism. Our conclusion is that she present TRP type III. The differential diagnoses including Ehler-Danlos syndrome, Larsen syndrome and Branchio-oto-renal syndrome.

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