Congenital constriction band syndrome with limb defects.
BACKGROUND
The purpose of this study was to clarify the spectrum of congenital constriction band syndrome (CBS) and associated anomalies and mortality in Finland.


METHODS
Register-based data were analyzed for children with congenital constriction bands in upper and lower extremities as a part of an ongoing study on 419 upper limb defects and 171 lower limb defects occurring among 753,342 births in Finland during 1993 to 2005.


RESULTS
A total of 71 cases with limb CBS were identified during the 13-year study period. The birth prevalence was 0.9 per 10 000 births (1:10 600). Infant mortality was 4.6% (3/65) and perinatal mortality 12.7% (9/71). In 35 cases (49%) only upper limbs were affected and in 13 cases (18%) there were constriction defects only in lower limbs. In 23 cases (32%) both upper and lower limbs were involved. None of the cases associated with a known syndrome. However, in 21 cases (30%) the child had other anomalies associated with constriction rings: pes equinovarus in 8/21, cleft palate in 5/21, congenital heart defect in 6/21, and other anomalies in 14/21. Eighteen (25%) had low birth weight, 22 (31%) were born preterm, and 8 children (11%) were small for gestational age. Children with associated anomalies showed higher mortality, shorter duration of gestation, and lower birth weight.


CONCLUSIONS
CBS is rare and comprises approximately 12% of all congenital upper limb defects and 14% of lower limb defects. Other skeletal and nonskeletal anomalies are present in 30% of the affected children, suggesting a possible genetic etiology. More detailed characterization of the children with associated anomalies may shed light to the pathogenetic mechanisms of this syndrome.


METHODS
Population-based register study/II.
*Department of Paediatric Surgery †Section of Orthopaedic Surgery, Turku University Central Hospital, Turku ‡Section of Paediatric Surgery, Hospital for Children and Adolescents, Helsinki University Central Hospital §Children's Hospital, Helsinki University Central Hospital and University of Helsinki ∥Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.
Eeva
E
Koskimies
Johanna
J
Syvänen
Yrjänä
Y
Nietosvaara
Outi
O
Mäkitie
Niklas
N
Pakkasjärvi
D000652:Amniotic Band Syndrome / Q000150:complications / Q000453:epidemiology; D005260:Female; D005387:Finland / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000453:epidemiology / Q000209:etiology; D035002:Lower Extremity; D008297:Male; D015995:Prevalence; D012042:Registries; D012307:Risk Factors; D013577:Syndrome; D034941:Upper Extremity