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Fine–Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance
Author(s) -
Holder Ashley M.,
Graham Brett H.,
Lee Brendan,
Scott Daryl A.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31688
Subject(s) - brachydactyly , microstomia , camptodactyly , sibling , autosomal recessive inheritance , craniofacial , craniosynostosis , medicine , pediatrics , genetics , anatomy , biology , psychology , pathology , developmental psychology , short stature , gene
In 1983, Fine and Lubinsky reported a single patient with craniofacial anomalies, hearing loss, cataracts, microstomia, CNS anomalies, and developmental delay. Since that time, three additional patients with similar findings have been described. In each case the patients was the only affected child in his or her family. Here we describe the first brother and sister sibling pair with features suggestive of Fine–Lubinsky syndrome. Features present in one or both of our patients, and the majority of previously described individuals with Fine–Lubinsky syndrome, include: craniosynostosis/abnormal calvaria, prominent frontal bones, flat facial profiles, small noses, microstomia, hearing loss, developmental delay/mental retardation, and abnormal digits. Unusual anomalies present in our patients include marked brachydactyly of fingers and toes, camptodactyly most severely affecting the second fingers, and permanence of decidual teeth. The identification of a sibling pair with Fine–Lubinsky suggests a possible autosomal recessive inheritance pattern. It is important that parents of children with Fine–Lubinsky be informed of the increased recurrence risk associated with that type of inheritance. © 2007 Wiley‐Liss, Inc.