Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?
Identifieur interne : 009D74 ( Main/Exploration ); précédent : 009D73; suivant : 009D75Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?
Auteurs : Junko Morimoto [Japon] ; Hidetoshi Kaneoka [Japon] ; Toshiaki Murata [Japon] ; Yumi Nakai Sato [Japon] ; Satoru Ogahara [Japon] ; Shinichi Hirose [Japon] ; Setsuya Naito [Japon] ; Kenji Naritomi [Japon]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 2001-01-22.
Abstract
A 25‐year‐old man is described with short stature, moderate mental retardation, an abnormal facial appearance, a webbed neck, skeletal abnormalities including proximal symphalangism of bilateral second through fifth fingers, mixed hearing loss, and slowly progressive, sclerosing nephropathy. He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (−4.9 SD). He had intermittent proteinuria and slowly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis. He was placed on maintenance peritoneal dialysis at age 17 years, and now on hemodialysis. His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus. Other abnormalities noted were a communicating defects of the diaphragm (surgically corrected), bilateral inguinal hernia and cryptorchidism. These clinical manifestations indicate a hitherto undescribed combination of manifestations and nephropathy. © 2001 Wiley‐Liss, Inc.
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DOI: 10.1002/1096-8628(20010122)98:3<269::AID-AJMG1079>3.0.CO;2-1
Affiliations:
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moderate mental retardation, an abnormal facial appearance, a webbed neck, skeletal abnormalities including proximal symphalangism of bilateral second through fifth fingers, mixed hearing loss, and slowly progressive, sclerosing nephropathy. He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (−4.9 SD). He had intermittent proteinuria and slowly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis. He was placed on maintenance peritoneal dialysis at age 17 years, and now on hemodialysis. His skeletal abnormalities included, in addition to proximal symphalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus. Other abnormalities noted were a communicating defects of the diaphragm (surgically corrected), bilateral inguinal hernia and cryptorchidism. These clinical manifestations indicate a hitherto undescribed combination of manifestations and nephropathy. © 2001 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Morimoto, Junko" sort="Morimoto, Junko" uniqKey="Morimoto J" first="Junko" last="Morimoto">Junko Morimoto</name></noRegion><name sortKey="Hirose, Shinichi" sort="Hirose, Shinichi" uniqKey="Hirose S" first="Shinichi" last="Hirose">Shinichi Hirose</name><name sortKey="Kaneoka, Hidetoshi" sort="Kaneoka, Hidetoshi" uniqKey="Kaneoka H" first="Hidetoshi" last="Kaneoka">Hidetoshi Kaneoka</name><name sortKey="Morimoto, Junko" sort="Morimoto, Junko" uniqKey="Morimoto J" first="Junko" last="Morimoto">Junko Morimoto</name><name sortKey="Murata, Toshiaki" sort="Murata, Toshiaki" uniqKey="Murata T" first="Toshiaki" last="Murata">Toshiaki Murata</name><name sortKey="Naito, Setsuya" sort="Naito, Setsuya" uniqKey="Naito S" first="Setsuya" last="Naito">Setsuya Naito</name><name sortKey="Naritomi, Kenji" sort="Naritomi, Kenji" uniqKey="Naritomi K" first="Kenji" last="Naritomi">Kenji Naritomi</name><name sortKey="Ogahara, Satoru" sort="Ogahara, Satoru" uniqKey="Ogahara S" first="Satoru" last="Ogahara">Satoru Ogahara</name><name sortKey="Sato, Yumi Nakai" sort="Sato, Yumi Nakai" uniqKey="Sato Y" first="Yumi Nakai" last="Sato">Yumi Nakai Sato</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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