Abstract
Multiple pterygium syndrome is a relatively rare disorder characterized by pterygia of the neck, axilla, digits, antecubital, popliteal and intercrural areas. Affected individuals may also have multiple congenital contractures and the diagnosis of arthrogryposis is frequently the presenting complaint. We describe monochorionic diamniotic female twins with multiple pterygium syndrome. The twins were born at 32 weeks' gestation to a 19-year-old G2 P1001. The suspicion of cystic hygroma in one twin was raised during ultrasound screening of the pregnancy at 22 weeks' gestation and the cystic mass was found in Twin B at delivery; it resolved in the first few days of life. Each newborn presented with flexion deformities of the upper and lower extremities, pterygia of the neck, upper arms, antecubital and popliteal regions. The most prominent pterygia involved the upper extremities and neck. Each had angular facies with micrognathia. Twin A had left sided talipes equino varus with right side vertical talus. Twin B has bilateral talipes equino varus. Twin A had a cleft of the soft palate. Twin B had Tetralogy of Fallot requiring a modified Blalock Taussig shunt in the newborn period. Chromosomal studies showed normal female karyotypes in both. Although most cases are sporadic, some appear to be familial and may follow an autosomal recessive pattern of inheritance. Cardiac anomalies in this condition are infrequently reported. Twin A responded well to treatment and was discharged to the referring hospital. Twin B remains in our hospital and still requires ventilatory assistance. Affected identical twins have not previously been reported. This diagnosis should always be considered on a newborn with pterygia.
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Duran, C., Ladda, R. & Marks, K. MULTIPLE PTERYGIUM SYNDROME IN IDENTICAL TWINS. Pediatr Res 21 (Suppl 4), 227 (1987). https://doi.org/10.1203/00006450-198704010-00363
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DOI: https://doi.org/10.1203/00006450-198704010-00363