engleski

Fryns syndrome: epidemiological data from 33 European birth registries

Fryns syndrome (OMIM 229850) is a rare autosomal recessive malformation syndrome. The main features include diaphragmatic hernia, characteristic dysmorphic features, and distal limb anomalies. Additional malformations of central nervous system, gastrointestinal and genitourinary system can be present as well. Because of the rarity and observed phenotypic variability there is a need for better delineation of epidemiological and clinical aspects of this condition. We present data on 22 cases of Fryns syndrome reported to a large European network of congenital malformation registries (EUROCAT) in the 1980-2002 period. Prenatal ultrasound examination detected abnormalities in 13/22 (59%) fetuses. Mean gestational age at discovery of an abnormality by prenatal ultrasound was 22± ; 3.9(18-33) gestational weeks. Congenital diaphragm362880 atic hernia (20/22 or 91%), limb defects (16/22 or 72.7%), genitourinary tract anomalies (16/22 or 72.7%) and cleft palate (10/22 or 45.5%) were the most frequently found malformations. There were 4/24 (18.2%) fetal deaths, 12/22 (54.54%) pregnancy terminations and only 6/22 (27.3%) live born. Male: female ratio was 2 (14/7). The mean gestational age at birth was 33 weeks. The mean live birth weight was 1591± ; 967g for males and 2075± ; 125g for females. Only one newborn survived the first week of life. Parental consanguinity was present in 11/22 (50%) instances. In 9/22 (41%) cases previous siblings with anomalies were noted, but in only one case Fryns syndrome was confirmed. Karyotyping was performed in 9 cases and no chromosomal abnormality was found. No evidence of specific teratogenic exposure was observed.

Fryns syndrome; epidemiology; prenatal diagnosis

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