Characterization of the clinical and behavioral phenotype of the tricho-rhino-phalangeal syndrome type I. A case report

Authors

  • Noel Taboada Lugo Centro Provincial de Genética Médica http://orcid.org/0000-0002-1254-8087
  • Aizar Ríos Ayala Centro de Rehabilitación Tiki Maia, Departamento Pando, Estado Plurinacional de Bolivia
  • Noelya Velky Montecinos Zubieta Unidad de Discapacidad del Ministerio de Salud y Deportes, La Paz, Estado Plurinacional de Bolivia

Keywords:

tricho-rhino-phalangeal syndrome type I, cone-shaped epiphysis, bulbous nose, sparse hair, clinical and behavioral phenotype

Abstract

Klingmuller made the first description of two brothers with this dysmorphic pattern in 1956 and it was Giedion who, a decade later, used the name tricho-rhino-phalangeal for this syndrome. Phenotypically, three types are described with different clinical gradations. Type I or Giedion syndrome is the one that shows the highest incidence worldwide, has a lower severity in the clinical phenotype. It is transmitted with an autosomal dominant inheritance pattern. The case of a 10-year-old patient is reported. The patient had a dysmorphic pattern and typical radiological findings that led to the clinical diagnosis of this syndrome. A detailed delineation of the clinical and behavioral phenotype of the patient is conducted, as well as the differential diagnosis with other genetic syndromes with a similar dysmorphic pattern.

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Author Biographies

Noel Taboada Lugo, Centro Provincial de Genética Médica

Especialista de I y II Grado en Medicina General Integral. Especialista de I y II Grado en Genética Clínica. Máster en Atención Integral al Niño. Profesor Auxiliar de la Universidad de Ciencias Médicas de Villa Clara.

Aizar Ríos Ayala, Centro de Rehabilitación Tiki Maia, Departamento Pando, Estado Plurinacional de Bolivia

Médico cirujano. Máster en Asesoramiento Genético.

Noelya Velky Montecinos Zubieta, Unidad de Discapacidad del Ministerio de Salud y Deportes, La Paz, Estado Plurinacional de Bolivia

Médico cirujano. Máster en Asesoramiento Genético.

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Published

2018-10-06

How to Cite

1.
Taboada Lugo N, Ríos Ayala A, Montecinos Zubieta NV. Characterization of the clinical and behavioral phenotype of the tricho-rhino-phalangeal syndrome type I. A case report. Acta Méd Centro [Internet]. 2018 Oct. 6 [cited 2025 Jul. 12];12(4):471-6. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/776

Issue

Vol. 12 No. 4 (2018): October-December

Section

Case Reports

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