[Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases]. / Síndrome de Fraser: frecuencia en nuestro medio y aspectos clínico-epidemiológicos de una serie consecutiva de casos.
An Esp Pediatr
; 48(6): 634-8, 1998 Jun.
Article
in Es
| MEDLINE
| ID: mdl-9662850
OBJECTIVE: Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of Fraser syndrome. The generally accepted criterion for the diagnosis is at least the presence of 2 major and one minor characteristic, or one major and four minor characteristics. The etiology of the syndrome is autosomal recessive and siblings are frequently affected. PATIENTS AND METHODS: We show the characteristics of the 7 cases of Fraser syndrome identified in the consecutive series of 1,405,374 liveborn infants and 9,042 stillborn children surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1997. RESULTS AND CONCLUSIONS: The minimal estimated frequency of Fraser syndrome is 0.43 per 100,000 liveborn infants and 11.06 per 100,000 stillbirths. As has been shown in other case studies, we have observed a wide clinical expression of this syndrome. At present it is possible to prenatally detect some of the characteristics of Fraser syndrome through ultrasound examination of eyes, digits and kidneys. Four out of the 7 cases we present here were gypsies and the frequency of the syndrome among liveborn gypsy infants is 129.3 times higher than among the non-gypsy population. Therefore, given that the frequency of the gene is higher in the gypsy population than in other ethic groups, it is recommended that a special search among gypsies for the identification of this and other autosomal recessive syndromes be performed.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Orbit
/
Abnormalities, Multiple
/
Nose
/
Syndactyly
/
Eyelids
/
Genitalia
Type of study:
Prognostic_studies
Aspects:
Ethics
Limits:
Female
/
Humans
/
Male
/
Newborn
Country/Region as subject:
Europa
Language:
Es
Journal:
An Esp Pediatr
Year:
1998
Document type:
Article
Country of publication: