Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay

Amaç & Hipotez:Nablus mask-like facial syndrome (NMLFS) is defined by distinctive craniofacial appearance including tight-appearing glistening facial skin, blepharophimosis, telecanthus, severe arched eyebrows, flat and broad nose, long philtrum, distinctive ears, unusual hair patterns, mild developmental delay and “happy” disposition.

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Temel Bulgular & Veri:We aim to report a 7-year-old boy diagnosed with NMLFS and moderate developmental delay.

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Sonuç & Katkı:Literature emphasis that Intellectual Disability is common in this syndrome though it has been diagnosed to only a few people worldwide.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Abstract

Nablus mask-like facial syndrome (NMLFS) is defined by distinctive craniofacial appearance including tight-appearing glistening facial skin, blepharophimosis, telecanthus, severe arched eyebrows, flat and broad nose, long philtrum, distinctive ears, unusual hair patterns, mild developmental delay and “happy” disposition. We aim to report a 7-year-old boy diagnosed with NMLFS and moderate developmental delay. Literature emphasis that Intellectual Disability is common in this syndrome though it has been diagnosed to only a few people worldwide.

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Bu Makaleye Atıf Yap

DURSUN, O. B., TURAN, B., AKINCI, M. A., Esin, İ. S. (2022). Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay. Eurasian Journal of Medicine, Cilt: 52 - Sayı: 2, 229–230. https://ajindex.com/articles/508870

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Kaynakça (2)

Teebi AS. Nablus mask-like facial syndrome. Am J Med Genet A 2000; 95: 407-8
Jamuar SS, Duzkale H, Duzkale N,, et al. Deletion of chromosome 8q22. 1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype. Am J Med Genet A 2015; 167: 1400-5. [Crossref] 3. Debost-Legrand A, Eymard-Pierre E, Pebrel- Richard C, et al. A new case of 8q22. 1 microdeletion restricts the critical region for Nablus mask-like facial syndrome. Am J Med Genet A 2013; 161: 162-5. [Crossref] 4. Overhoff J, Rabideau MM, Bird LM, et al. Refinement of the 8q22. 1 microdeletion critical region associated with Nablus mask-like facial syndrome. Am J Med Genet A 2014; 164: 259-63. [Crossref] 5. Jain S, Yang P, Farrell S. A case of 8q22. 1 microdeletion without the Nablus mask-like facial syndrome phenotype. Eur J Med Genet 2010;5 3: 108-10. [Crossref] 6. Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, et al. The 8q22. 1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. Eur J Med Genet 2009; 52: 140-4. [Crossref]