| Autor: |
Noel Taboada Lugo, Aizar Ríos Ayala, Noelya Velky Montecinos Zubieta |
| Jazyk: |
Spanish; Castilian |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Acta Médica del Centro, Vol 12, Iss 4, Pp 471-476 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2709-7927 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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