LAUSR

We read with interest an article published in your Journal, “A case of blepharophimosis: Freeman Sheldon syndrome” (1). It is wonderful seeing this syndrome correctly identified. Unfortunately, there were several unclear or inaccurate points, suggesting an incomplete literature search. As Freeman– Sheldon syndrome, now Freeman–Burian syndrome (FBS) (2), is exquisitely rare, many encountering it are particularly eager to publish. In describing the syndrome and their patient, the authors omit the diagnostic criteria (microstomia, pursed lips, deep nasolabial folds, and Hor V-shaped chin defect and two major arthrogryposes—typically, camptodactyly with ulnar deviation and equinovarus) (1,2). Instead, the authors list common findings, some of which are included in the diagnostic criteria, but most are not (1,2). Omitting the diagnostic criteria, listing non-diagnostic findings, and not stating findings the patient had that satisfied the diagnostic criteria can confuse the reader unfamiliar with FBS. While FBS has had many classifications since its first description in 1938, the most reasonable seems to be as a complex congenital myopathic craniofacial syndrome (2). Both the original study and a later meta-analysis showed features of distal arthrogryposis are not required for diagnosis. Diagnosis is based on the presence of microstomia, pursed lips, deep nasolabial folds, and Hor V-shaped chin defect. FBS can no longer be cogently considered a distal arthrogryposis syndrome, though many continue to do this (2). Illustrated by the difficulty in diagnosing the authors’ patient and the perplexing initial differential diagnosis of VACTERL sequence, evidence suggests that plastic or craniofacial surgeons may be in the best position to diagnose, evaluate, and care for these patients (2). VACTERL sequence is very dissimilar to FBS, but pediatricians and geneticists, who did the workup on the patient described in this case report, are generalists. Generalists are not best able to identify craniofacial syndromes and appreciate their global implications for the patient’s care (2). Moreover, the craniofacially focused clinical diagnostic criteria are straightforward and correlated with positive molecular testing (2). Currently, molecular testing, which many insurances will not cover, confers no added clinical benefit, and as many as 7% of clinically diagnosed patients have no identified mutation (3). The authors may have misunderstood a FBS previous case report on blepharophimosis and therapeutic blepharoplasty (4). Based on our conversations with authors of that case report, they did not encounter abnormal bleeding. They were surprised by a normal amount of bleeding in the craniofacial area, which they viewed to be excessive given the absence of any muscle. They indicated their patient had dark auburn hair, which has long been speculated to be associated with increased bleeding that remains within the normal range. They clarified that their patient did not experience any cheese-wiring of sutures, and there is no evidence in the literature for excessive bleeding or cheese-wiring in FBS (2). It is concerning the authors imply that oculoplastic consultation would be possibly cosmetic in FBS (1). Vision preservation is one of the primary goals of operative treatment in FBS. The patient in the case report cited by the authors experienced a partial vision loss, despite partial opening of the eyelids (4). At a minimum, the pupil must be exposed, and pupil exposure was the operative goal in the case report cited (4). With pupil exposure, the authors of the case report explained in conversations with us that their patient’s OS corrected distant visual acuity improved from 20/40 to 20/35 10-year postoperatively. Based on new evidence, cases once believed to represent an autosomal recessive or X-linked inheritance pattern are now believed to be a germline mosaicism (2,3). Most inherited cases have a parent with clinical evidence of FBS and are not germline mosaicisms, however (3). Both inherited (as autosomal dominant) and non-inherited (sporadic) cases have been shown to have MYH3 mutations, and no specific mutations are exclusively inherited or sporadic (3). While general anesthesia is complex in FBS, the anesthesia clinical practice guidelines for FBS do not indicate these patients have an elevated risk of malignant hyperthermia (3,5). Additionally, hyperpyrexia alone may occur with nonoperative physiologically stressful situations in FBS (4). Moreover, pneumothorax is not a typical complication of intubation in FBS (5). In FBS, most facts repeated as true are, in fact, false, and care must be taken in interpreting them. This is the tenth FBS case report in the last 2 years with similar errors to which we have