American Journal of Medical Genetics 102:214 (2001)

Letter to the Editor

Differences Between Nablus Mask-Like FacialSyndrome and Blepharo-Naso-Facial Syndrome

To the Editor:

Dr. Allanson [2001] proposes that Nablus Mask-Like-Facial syndrome, which I described recently [Teebi,2000], is identical to Blepharo-Naso-Facial syndrome(BNFS) previously described in one family [Pashayanet al., 1973]. Dr. Allanson mentions that she has areport in press describing a second family with BNFS(journal source not mentioned). While I agree there are

some similarities between the features of the patient Ireported and BNFS, speci®cally with regard to theexpressionless face, shape of the nose, pouty lower lip,and ear shape (her case only), the dissimilarities areremarkable (Table I). Most notably, the boy I reportedon has tight, glistening facial skin, compared to thethickened facial skin reported in the cases by Pashayanet al. and Dr. Allanson, which caused him to appear asthough he was wearing a mask. Other notable featuresof BNFS lacking in the patient I described includelacrimal duct obstruction, displacement of the innercanthi, mental retardation, torsion dystonia, and jointlaxity. In conclusion, based on the phenotypes, I believethat Nablus Mask-Like Facial syndrome and BNFSare two different syndromes which re¯ect the hetero-geneity of mask-like facial syndromes.

REFERENCES

Allanson J. 2001. Nablus mask-like facial syndrome. Am J Med Genet 120:212±213.

Pashayan H, Pruzansky S, Putterman A. 1973. A family with Blepharo-naso-facial malformation. Am J Dis Child 125:389:393.

Teebi AS. 2000. Nablus mask-like facial syndrome. Am J Med Genet95:407±408.

Ahmad S. Teebi*Division of Clinical & MetabolicGenetics, The Hospital for SickChildren, Toronto, Ontario, Canada

TABLE I. Dissimilarities Between BNFS* and Nablus Mask-LikeFacial Syndrome

Clinical ®ndings BNFS

Nablusmask-likesyndrome

Tight glistening facial skin ÿ (Thick skin) �Upswept frontal hair ÿ �Dystopia canthorum � ÿLacrimal duct obstruction � ÿBlepharophimosis ÿ �Antimongoloid slant of

Palpebral tissues� ÿ

Absent/scant eye brows ÿ �Abnormal ear con®guration ÿ �Mental retardation � ÿTorsion dystonia � ÿJoint laxity � ÿ*Dr. Allanson's cases are not included because of insuf®cient data.

*Correspondence to: Dr. Ahmad S. Teebi, Division of ClinicalGenetics, The Hospital for Sick Children, 555 University Avenue,Toronto, Ontario, M5G 1X8, Canada.E-mail: ateebi@sickkids.on.ca

Received 21 February 2000; Accepted 15 March 2001

ß 2001 Wiley-Liss, Inc.