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Reply to Ruiter et al.: A possible example of acrofacial dysostosis type Kennedy–Teebi

Ruiter et al. [2005] in their letter report a patient with craniofacial features resembling those reported recently by Kennedy and Teebi [2004]. These features are blepharophimosis, a peculiar beaked nose, low set dysplastic ear, malar hypoplasia, a long smooth philtrum, micrognathia, cleft palate, and relative microcephaly with OFC on 2nd centile and length on 40th centile at birth. Other features include arthrogryposis, presumably distal (not specified in their letter), with an absent left thumb and a hypoplastic right thumb. The authors suggest that their patient’s features are consistent with Nager syndrome (NS), mainly based on asymmetry of hand involvement, presence of cleft palate without cleft lip, and absence of microcephaly. In response to this I would like to stress the following: first, the absent thumb in one hand and a hypoplastic thumb in the other are clearly variable degrees of symmetric involvement; second, the presence of cleft palate without cleft lip is not uncommon in families where cleft lip and cleft palate are ascertained; and third, the patient’s relative microcephaly at birth, in the absence of a follow-up of head size (the patient died in early life), should not be ignored. Furthermore, it can not be considered normal to favor one diagnosis over the other. While NS is a very well delineated entity with more than 85 patients described [Gorlin et al., 2001], it is reasonable to consider the peculiar facial appearance and developmental delay in the cases reported by Kennedy and Teebi [2004] as differentiating features. This is in addition to the apparent pattern of autosomal recessive inheritance. It is possible that the patient seen by Ruiter et al. [2005] is another example of the Kennedy–Teebi type of acrofacial dysostosis, thus expanding the spectrum of this syndrome. Molecular characterization in the near future will be able to differentiate between NS and similar phenotypes.