In:
Congenital Anomalies, Wiley, Vol. 53, No. 4 ( 2013-12), p. 155-159
Abstract:
Oral‐facial‐digital syndrome type 1 ( OFD 1; MIM 311200) is characterized by multiple anomalies of the oral cavity, face and digits. We report a family with OFD 1, where two female siblings and their mother shared the same mutation of the responsible gene ( OFD 1 ) c.1193_1196del AATC . Phenotypic variability was observed among them; the mother showed minimal features of OFD 1, whereas her two daughters showed partial features and the full spectrum of OFD 1, respectively. Thus, OFD 1 was suspected only after a health check‐up during pregnancy of the second patient showing fetal brain anomaly and maternal polycystic kidney. For these reasons, there was a delay in the recognition of OFD 1 in this family. Patients with OFD 1 show phenotypic variability, which poses challenges for genetic counseling.
Type of Medium:
Online Resource
ISSN:
0914-3505
,
1741-4520
DOI:
10.1111/cga.2013.53.issue-4
DOI:
10.1111/j.1741-4520.2012.00384.x
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
2139944-X
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