Deletion mapping of split hand/split foot malformation with hearing impairment: a case report.

@article{Fukushima2003DeletionMO,
  title={Deletion mapping of split hand/split foot malformation with hearing impairment: a case report.},
  author={Kunihiro Fukushima and Kyoko Nagai and Haruyo Tsukada and Akemi Sugata and Kenichi Sugata and Norio Kasai and Namiki Kibayashi and Yukihide Maeda and Mehmet Gunduz and Kazunori Nishizaki},
  journal={International journal of pediatric otorhinolaryngology},
  year={2003},
  volume={67 10},
  pages={1127-32}
}
Split hand/split foot malformation (SHFM), which typically appears as lobster-like limb malformation, is a rare clinical condition caused by a partial deletion of chromosome 7q. Hearing impairment sometimes accompanies syndromic SHFM cases; a case of inner and middle ear malformation with SHFM is described in this report. We conducted a genetic evaluation of this patient and found a deleted region that overlaps a previously reported locus of SHFM as well as a DFNB14 locus that can cause… CONTINUE READING
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