Clinical Manifestations of Constriction Band Syndrome.

BACKGROUND

Constriction band syndrome (CBS) is a congenital limb anomaly with varying presentation. We sought to characterize the clinical manifestations of CBS by analyzing a large cohort of patients. Our secondary aim was to evaluate potential risk factors for CBS.

METHODS

We retrospectively reviewed the records for all patients with CBS who had presented to our tertiary medical center between 1998 and 2018. Examination by a pediatric orthopaedic surgeon and the presence of pathognomonic features were inclusion criteria. Clinical notes, photographs, and radiographs were reviewed to determine the pattern of limb involvement and associated conditions. Demographic data were compared with population averages to assess for possible risk factors.

RESULTS

One hundred and twenty-eight children were included. The most prevalent feature was constriction bands (96%), followed by limb or digit amputations (88%) and syndactyly/acrosyndactyly (69%). Children without constriction bands presented with either acrosyndactyly or growth of an osseous spike from a congenital diaphyseal limb or digit amputation. There was a strong predilection for involvement of central digits of the hands and feet, with sparing of the thumb/great toe and small finger/toe. The average number of involved limbs per child was 2.6; 23% of the children had involvement of only 1 limb. Children with at least 1 additional diagnosis had more limbs affected by CBS than those who were otherwise healthy (2 limbs [interquartile range (IQR), 1-3 limbs] versus 3 limbs [IQR, 2-4 limbs]; p = 0.006), suggesting a more severe phenotype. Children with more limbs involved underwent more surgical procedures (p < 0.001). CBS was associated with gestational trauma, prematurity, low birth weight, young and old maternal age, and higher social deprivation.

CONCLUSIONS

Children with CBS can be categorized as having either mild or extensive involvement based on the number of involved limbs and associated conditions. Future investigation of prenatal risk factors is necessary to further elucidate the etiology of this heterogenous condition.

LEVEL OF EVIDENCE: Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.