A Family with Craniofrontonasal Syndrome
2018 ◽
Vol 55
(7)
◽
pp. 1026-1029
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Keyword(s):
Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes, clefting of the nasal tip, and various skeletal anomalies. Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. Although familial CFNS cases have been reported, no studies in the literature describe familial cases of CFNS expressing bilateral cleft lip and palate. Here, we describe a Japanese family with three cases of CFNS expressing bilateral cleft lip and palate.
2019 ◽
Vol 43
(4)
◽
pp. 288-291
1976 ◽
Vol 10
(1)
◽
pp. 45-55
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2000 ◽
Vol 12
(3)
◽
pp. 421-441
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Keyword(s):
2015 ◽
Vol 18
(1)
◽
pp. 108
Keyword(s):
2004 ◽
Vol 41
(4)
◽
pp. 410-415
◽
1992 ◽
Vol 89
(3)
◽
pp. 419-432
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Keyword(s):
2021 ◽
Vol Publish Ahead of Print
◽
1992 ◽
Vol 29
(4)
◽
pp. 380-384
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Keyword(s):