Resumen

HERNANDEZ GARCIA, Iván et al. Aarskog syndrome: phenotypic findings in a cohort of patients. Rev Cubana Pediatr [online]. 2008, vol.80, n.4, pp. 0-0. ISSN 1561-3119.

The phenotypic fndings of 7 patients who were diagnosed Aarskog syndrome in the Service of Genetics of «William Soler» Pediatric Teaching Hospital were presented. The phenotypic characteristics appearing in all patients were widow's peak, short extremities and brachydactilia. They were followed in order of frequency (85 %) by small nose, wide nasal bridge and long and wide filtrum. Other facial dismorphies (71 %) were wide forehead, anteverted narines, hypertelorism, short neck and simian crease. It is discussed the possibility that there is some bias of detection due to the fact that the examiner pays more attention to the face than to other body segments. Criptorchydia, that distinguishes and gives name to the syndrome, was found in a lower percent of individuals (60 %). Renal hypoplasia, an occasional finding in the consulted literature, was observed in 2 cases. Mental retardation was not confirmed in any case. The phenoptypic differences detected could be attributed to mollecular differences reported in literature.

Palabras clave : Aarskog syndrome; low height; cryptorchidia; faciodigitogenital dysplasia.

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