Reply From Dr. Shprintzen
Thank you for the opportunity to respond to Dr. Pagon's letter regarding the patient published by Dr. Beemer and his colleagues and myself [Beemer et al, 19861. Having studied many different aspects of the Velo-cardio-facial syndrome, I felt it important to respond to Dr. Pagon's letter.
Dr. Pagon has suggested that the patient described by Beemer et al [ 19861 has the CHARGE "association" and not the Velo-cardio-facial syndrome. Since Dr. Pagon has raised the question regarding the diagnosis, a review of Dr. Beemer's case in comparison to others with Velo-cardio-facial syndrome is necessary. Dr. Pagon's interest in the CHARGE "association" and her contributions towards its description is well-known [ 19811. Perhaps by analyzing the two perspectives on CHARGE and Velo-cardio-facial syndrome we might add to a common ground of knowledge.
Dr. Pagon's comment that the findings in the Dutch patient "exceed" those typically described in Velo-cardio-facial syndrome refers, I assume, to the current literature describing this common syndrome of known cause. In fact, the findings in Dr. Beemer's patient are perfectly consistent with the diagnosis of Velo-cardio-facial syndrome. Furthermore, the intent of Dr. Beemer's Letter to the Editor was to further delineate the Velo-cardio-facial syndrome by documenting specific eye anomalies not described by Fitch [1983] or Shprintzen et al [1985] in earlier reports on the syndrome or in McKusick's recent citation [ 19861. In addition, other manifestations of Velo-cardio-facial syndrome have not yet reached the scientific literature but are either in press or in preparation for future publications. I have seen just over 100 patients with Velocardio-facial syndrome. I have also reviewed clinical records in an additional 30 or more cases, including several of Dr. Beemer's patients. On the basis of this experience, I conclude that Dr. Beemer's case is an example of a relatively severe expression of Velo-cardio-facial syndrome.
Regarding the findings in Dr. Beemer's case, only one is a "new" finding. The rest have been described before and therefore do not "exceed" the diagnostic criteria. The congential heart defect, developmental delays, mildly anomalous auricles, velopharyngeal insufficiency, and submucous cleft palate are all frequent findings in Velo-cardio-facial syndrome. Sensorineural hearing loss was reported previously [Shprintzen et al, 1978, 198 I], and I have found it in several other cases not yet reported. Unilateral facial palsy was actually first reported by Strong [1968] as "facial asymmetry," and I have subsequently described this as an occasional finding [Shprintzen, 19871. The "pharyngeal