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

Kunihiro Fukushima; Kyoko Nagai; Haruyo Tsukada; Akemi Sugata; Kenichi Sugata; Norio Kasai; Namiki Kibayashi; Yukihide Maeda; Mehmet Gunduz; Kazunori Nishizaki

doi:10.1016/S0165-5876(03)00193-9

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

Kunihiro Fukushima, Kyoko Nagai, Haruyo Tsukada, Akemi Sugata, Kenichi Sugata, Norio Kasai, Namiki Kibayashi, Yukihide Maeda, Mehmet Gunduz, Kazunori Nishizaki

University Hospital

Research output: Contribution to journal › Article › peer-review

15 Citations (Scopus)

Abstract

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 nonsyndromic hearing impairment by autosomal recessive inheritance.

Original language	English
Pages (from-to)	1127-1132
Number of pages	6
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	67
Issue number	10
DOIs	https://doi.org/10.1016/S0165-5876(03)00193-9
Publication status	Published - Oct 2003

Keywords

Hearing impairment
Mapping
Split hand/split foot malformation

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Otorhinolaryngology

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10.1016/S0165-5876(03)00193-9

Cite this

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title = "Deletion mapping of split hand/split foot malformation with hearing impairment: A case report",

abstract = "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 nonsyndromic hearing impairment by autosomal recessive inheritance.",

keywords = "Hearing impairment, Mapping, Split hand/split foot malformation",

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",

note = "Funding Information: This project is partly supported by grants from the Ministry of Health, Labor, and Welfare and a grant for young scientists from the Ministry of Education, Culture, Sports, Science and Technology.",

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T1 - Deletion mapping of split hand/split foot malformation with hearing impairment

T2 - A case report

AU - Fukushima, Kunihiro

AU - Nagai, Kyoko

AU - Tsukada, Haruyo

AU - Sugata, Akemi

AU - Sugata, Kenichi

AU - Kasai, Norio

AU - Kibayashi, Namiki

AU - Maeda, Yukihide

AU - Gunduz, Mehmet

AU - Nishizaki, Kazunori

N1 - Funding Information: This project is partly supported by grants from the Ministry of Health, Labor, and Welfare and a grant for young scientists from the Ministry of Education, Culture, Sports, Science and Technology.

PY - 2003/10

Y1 - 2003/10

N2 - 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 nonsyndromic hearing impairment by autosomal recessive inheritance.

AB - 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 nonsyndromic hearing impairment by autosomal recessive inheritance.

KW - Hearing impairment

KW - Mapping

KW - Split hand/split foot malformation

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JO - International Journal of Pediatric Otorhinolaryngology

JF - International Journal of Pediatric Otorhinolaryngology

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

Abstract

Keywords

ASJC Scopus subject areas

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