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—As there can be a great deal of variation of clinical findings within a syndrome, it is possible that the brother and sister whom we described in our article in the Archives have the same condition as those patients described by van Schooneveld et al.1 However, neither of our patients had a cleft lip or a cleft palate, and neither had low-set ears or dysplastic auricles, although the sister did have preauricular pits. WIthout specific measurements, which were not included in either report, it is difficult to say if the type of short stature or limb abnormalities are identical. The facial appearance of one patient photographed in the article by van Schooneveld et al1 and that of the patient described by Harcourt2 (cited in the article by van Schooneveld et al) are distinct enough from that of our patients to raise concern about their similarity.
Kivlin JD, Fineman RM, Crandall AS, Olson RJ. Peters' Anomaly and Systemic Defects-Reply. Arch Ophthalmol. 1986;104(8):1130. doi:10.1001/archopht.1986.01050200036032