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Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
Am J Med Genet A. 2010 Jul; 152A(7):1838-40.AJ

Abstract

We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome.

Authors+Show Affiliations

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil. roselizc@centrinho.usp.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20583178

Citation

Zechi-Ceide, Roseli Maria, et al. "Mandibulofacial Dysostosis, Severe Lower Eyelid Coloboma, Cleft Palate, and Alopecia: a New Distinct Form of Mandibulofacial Dysostosis or a Severe Form of Johnson-McMillin Syndrome?" American Journal of Medical Genetics. Part A, vol. 152A, no. 7, 2010, pp. 1838-40.
Zechi-Ceide RM, Guion-Almeida ML, Jehee FS, et al. Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? Am J Med Genet A. 2010;152A(7):1838-40.
Zechi-Ceide, R. M., Guion-Almeida, M. L., Jehee, F. S., Rocha, K., & Passos-Bueno, M. R. (2010). Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? American Journal of Medical Genetics. Part A, 152A(7), 1838-40. https://doi.org/10.1002/ajmg.a.33477
Zechi-Ceide RM, et al. Mandibulofacial Dysostosis, Severe Lower Eyelid Coloboma, Cleft Palate, and Alopecia: a New Distinct Form of Mandibulofacial Dysostosis or a Severe Form of Johnson-McMillin Syndrome. Am J Med Genet A. 2010;152A(7):1838-40. PubMed PMID: 20583178.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? AU - Zechi-Ceide,Roseli Maria, AU - Guion-Almeida,Maria Leine, AU - Jehee,Fernanda Sarquis, AU - Rocha,Katia, AU - Passos-Bueno,Maria Rita Santos, PY - 2010/6/29/entrez PY - 2010/6/29/pubmed PY - 2010/9/30/medline SP - 1838 EP - 40 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 152A IS - 7 N2 - We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/20583178/Mandibulofacial_dysostosis_severe_lower_eyelid_coloboma_cleft_palate_and_alopecia:_A_new_distinct_form_of_mandibulofacial_dysostosis_or_a_severe_form_of_Johnson_McMillin_syndrome L2 - https://doi.org/10.1002/ajmg.a.33477 DB - PRIME DP - Unbound Medicine ER -