Differences between Nablus Mask-Like Facial syndrome and Blepharo-Naso-Facial syndrome

American Journal of Medical Genetics 102:214 (2001) Letter to the Editor Differences Between Nablus Mask-Like Facial Syndrome 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 [Pashayan et al., 1973]. Dr. Allanson mentions that she has a report 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 I reported and BNFS, specifically with regard to the expressionless face, shape of the nose, pouty lower lip, and ear shape (her case only), the dissimilarities are remarkable (Table I). Most notably, the boy I reported on has tight, glistening facial skin, compared to the thickened facial skin reported in the cases by Pashayan et al. and Dr. Allanson, which caused him to appear as though he was wearing a mask. Other notable features of BNFS lacking in the patient I described include lacrimal duct obstruction, displacement of the inner canthi, mental retardation, torsion dystonia, and joint laxity. In conclusion, based on the phenotypes, I believe that Nablus Mask-Like Facial syndrome and BNFS are two different syndromes which reflect 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 Genet 95:407–408. Ahmad S. Teebi* Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada TABLE I. Dissimilarities Between BNFS * and Nablus Mask-Like Facial Syndrome Clinical findings BNFS Nablus mask-like syndrome Tight glistening facial skin (Thick skin) Upswept frontal hair Dystopia canthorum Lacrimal duct obstruction Blepharophimosis Antimongoloid slant of Palpebral tissues Absent/scant eye brows Abnormal ear configuration Mental retardation Torsion dystonia Joint laxity * Dr. Allanson’s cases are not included because of insufficient data. *Correspondence to: Dr. Ahmad S. Teebi, Division of Clinical Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada. E-mail: [email protected] Received 21 February 2000; Accepted 15 March 2001 ß 2001 Wiley-Liss, Inc.

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Transcript of Differences between Nablus Mask-Like Facial syndrome and Blepharo-Naso-Facial syndrome

Page 1: Differences between Nablus Mask-Like Facial syndrome and Blepharo-Naso-Facial syndrome

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: [email protected]

Received 21 February 2000; Accepted 15 March 2001

ß 2001 Wiley-Liss, Inc.