Combination of unilateral polydactyly, syndactyly, and clinodactyly with occipitocervical encephalocele and vertebral fusion.
This report describes a 6-year-old Mexican boy presenting with inter alia, hitherto unrepaired cervical encephalocele and associated unilateral syndactyly. There was also ipsilateral clinodactyly of the thumb and possible polydactyly of the foot. In addition, there was unilateral fusion of the first and second cervical vertebrae and a Chiari type III malformation. Motor and language skills were grossly normal for age, with the exception of mild left hemiparesis affecting the arm more than the leg. Medical history was significant for incidental drainage from the encephalocele as well as occasional high fevers and possible episodes of central nervous system infection. The clinical findings were not consistent with Meckel-Gruber or any other well-recognized syndrome. It is our contention that this case documents a previously unreported constellation of congenital anomalies and, as such, may suggest a teratological insult or a new syndrome. Surgical repair was carried out with meticulous excision of dysplastic neural tissue, relocation of neural tissue within the thecal sac, and coverage of the repair site with a trapezius muscle flap. Skin was closed directly. Postoperative recovery was largely uneventful, with the exception of a seroma in the donor muscle bed.
de Chalain
T
T
Section of Plastic and Reconstructive Surgery, Emory Clinic, Atlanta, GA 30322.
Hudgins
R
R
Burstein
F
F
Armfield
K
K
D000015:Abnormalities, Multiple / Q000601:surgery*; D002574:Cervical Vertebrae / Q000002:abnormalities*; D002648:Child; D004677:Encephalocele / Q000150:complications* / Q000601:surgery; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D008591:Meningomyelocele / Q000150:complications* / Q000601:surgery; D017689:Polydactyly / Q000150:complications*; D013576:Syndactyly / Q000150:complications*; D014034:Toes / Q000002:abnormalities*