Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?
作者： Melissa M. Lees , Fiona Connelly , Loshan Kangesu , Brian Sommerlad , Angela Barnicoat
DOI: 10.1097/01.MCD.0000204987.61990.F0
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摘要: A family with midline nasal dermoids in four members over five generations is described. Two of these individuals also had a cleft lip. The pattern inheritance appears to be autosomal dominant variable expression. To our knowledge, no familial cases clefting have previously been reported the literature. Cranial imaging look for intracerebral extension dermoid recommended such cases.
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sci-hub.se 参考文章(16)
George C. Scrimshaw, Previous reports on median cleft lip. Plastic and Reconstructive Surgery. ,vol. 77, pp. 159- ,(1986) , 10.1097/00006534-198601000-00031
M Masuno, K Imaizumi, Y Fukushima, Y Tanaka, T Ishii, M Nakamura, Y Kuroki, Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2). Journal of Medical Genetics. ,vol. 34, pp. 952- 954 ,(1997) , 10.1136/JMG.34.11.952
W Reardon, B Jones, M Baraitser, Median clefting of the upper lip associated with cutaneous polyps. Journal of Medical Genetics. ,vol. 27, pp. 337- 338 ,(1990) , 10.1136/JMG.27.5.337
F. Denoyelle, V. Ducroz, G. Roger, Garabedian, Nasal Dermoid Sinus Cysts in Children The Laryngoscope. ,vol. 107, pp. 795- 800 ,(1997) , 10.1097/00005537-199706000-00014
Roy B. Sessions, Nasal dermal sinuses — New concepts and explanations Laryngoscope. ,vol. 92, pp. 1- 28 ,(1982) , 10.1288/00005537-198208001-00001
Vasilios A. Zerris, Don Annino, Carl B. Heilman, Nasofrontal dermoid sinus cyst: report of two cases. Neurosurgery. ,vol. 51, pp. 811- 814 ,(2002) , 10.1097/00006123-200209000-00039
G. S. Pai, Abner H. Levkoff, Richard E. Leithiser, James F. Reynolds, Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps American Journal of Medical Genetics. ,vol. 26, pp. 921- 924 ,(1987) , 10.1002/AJMG.1320260421
Clay Bratton, Dana L. Suskind, Talfryn Thomas, Evelyn A. Kluka, Autosomal dominant familial frontonasal dermoid cysts: a mother and her identical twin daughters International Journal of Pediatric Otorhinolaryngology. ,vol. 57, pp. 249- 253 ,(2001) , 10.1016/S0165-5876(00)00437-7
Terry D. Wardinsky, Roberta A. Pagon, Robert J. Kropp, Patricia W. Hayden, Sterling K. Clarren, Nasal dermoid sinus cysts: association with intracranial extension and multiple malformations. The Cleft Palate-Craniofacial Journal. ,vol. 28, pp. 87- 95 ,(1991) , 10.1597/1545-1569(1991)028<0087:NDSCAW>2.3.CO;2
Ann Licht, Jason Posner, Lyle S. Leipziger, Median Cleft Lip With Associated Midline Sinuses Journal of Craniofacial Surgery. ,vol. 9, pp. 366- 370 ,(1998) , 10.1097/00001665-199807000-00014