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         Enchondromatosis:     more detail

81. HUMERAL LENGTHENING FOR SEPTIC NEONATL GROWTH ARREST
al. reported humeral lengthening in 6 extermities; the diagnosis was arthrogryposis 1, enchondromatosis 1, posttraumatic hypoplasia 2, and congenital humerus
http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/hlength.htm
HUMERAL LENGTHENING FOR SEPTIC NEONATAL GROWTH ARREST
MAGDY ABDEL-MOTA'AL, M.D. , Orthopaedic Research Fellow . WILLIAM MACKENZIE, M.D. , Pediatric Orthopaedic Surgery Attending . March 12, 1996 CLINICAL CASE PRESENTATION ORTHOPAEDIC DEPARTMENT THE ALFRED I. DUPONT INSTITUTE WILMINGTON, DELAWARE INTRODUCTION Upper extremity limb length discrepancy is a rare occurrence. Although pediatric leg length equalization is well understood, surgical treatment of upper limb length discrepancy has rarely been described. This case report illustrates the use of Ilizarov's method for the treatment of humeral shortening secondary to septic neonatal growth arrest . CASE REPORT A three year one month old boy presented to AIDI with shortening of the right humerus. Clinical examination revealed 4 cm shortening of right arm and painless limitation of ROM of right shoulder; abduction was 150 degrees with 80 degrees at the glenohumeral joint and internal rotation was significantly limited. There was also 1 cm shortening of the right leg and a 10 degree valgus deformity of the same knee. Radiological examination showed absence of proximal epiphysis of the right humerus with marked deformity of the metaphyseal region. There was mild shortening of the right tibia in association with destruction of the lateral part of the proximal metaphysis and epiphysis. The diagnosis was neonatal sepsis with multifocal osteomyelitis involving the right humerus

82. Radiology Case 438-3114
Wauu.DE Health Conditions and Diseases Rare Disorders Ollier http//www.olliermaffucci.org/. Virtual Children s Hospital A look at enchondromatosis by Michael P. D Alessandro, MD Includes clinical presentation, etiology
http://www.sbu.ac.uk/~dirt/museum/438-3114.html
no history available
Analysis
There are defects in the phalanges with some elevation of the edges, indicating expanding lesions in the bone. The lesions have well demarcated endosteal margins. Diagnosis: Enchondromatosis, acroform, distal, expression. ian@idmhome.demon.co.uk

83. NORD - National Organization For Rare Disorders, Inc.
Copyright 1987, 1989, 1995, 1998, 2001 Synonyms of Ollier Disease enchondromatosis; Multiple Cartilaginous Enchondroses; Multiple enchondromatosis.
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ollier Diseas

84. Human Protein: Q03431 - Parathyroid Hormone/parathyroid Hormone-related Peptide
Gokgoz,N., Poon,R., Gensure,RC, Yu,C., Cole,WG, Bell,RS, Jueppner,H., Andrulis,IL, Wunder,JS, Alman,BA, A mutant PTH/PTHrP type I receptor in enchondromatosis.
http://harvester.embl.de/harvester/Q034/Q03431.htm
Human protein: Q03431 - Parathyroid hormone/parathyroid hormone-related peptide receptor precursor (PTH/PTHr receptor) (PTH/PTHrP type I receptor). EMBL
FORUM Length: 593 aa , molecular weight: 66360 Da , CRC64 checksum: MGTARIAPGL ALLLCCPVLS SAYALVDADD VMTKEEQIFL LHRAQAQCEK RLKEVLQRPA 60 SIMESDKGWT SASTSGKPRK DKASGKLYPE SEEDKEAPTG SRYRGRPCLP EWDHILCWPL 120 GAPGEVVAVP CPDYIYDFNH KGHAYRRCDR NGSWELVPGH NRTWANYSEC VKFLTNETRE 180 REVFDRLGMI YTVGYSVSLA SLTVAVLILA YFRRLHCTRN YIHMHLFLSF MLRAVSIFVK 240 DAVLYSGATL DEAERLTEEE LRAIAQAPPP PATAAAGYAG CRVAVTFFLY FLATNYYWIL 300 VEGLYLHSLI FMAFFSEKKY LWGFTVFGWG LPAVFVAVWV SVRATLANTG CWDLSSGNKK 360 WIIQVPILAS IVLNFILFIN IVRVLATKLR ETNAGRCDTR QQYRKLLKST LVLMPLFGVH 420 YIVFMATPYT EVSGTLWQVQ MHYEMLFNSF QGFFVAIIYC FCNGEVQAEI KKSWSRWTLA 480 LDFKRKARSG SSSYSYGPMV SHTSVTNVGP RVGLGLPLSP RLLPTATTNG HPQLPGHAKP 540 GTPALETLET TPPAMAAPKD DGFLNGSCSG LDEEASGPER PPALLQEEWE TVM 593 //
UniProt
ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 27, 1-OCT-1993

85. Cancer Spectrum Medline Abstract
J Pediatr Adolesc Gynecol 1998;11(3) 14750. Juvenile granulosa cell tumor in a 13-year-old girl with enchondromatosis (Ollier s disease) a case report.
http://jncicancerspectrum.oupjournals.org/cgi/medline/pmid;9704306
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Medline Abstract
J Pediatr Adolesc Gynecol 1998;11(3): 147-50 Juvenile granulosa cell tumor in a 13-year-old girl with enchondromatosis (Ollier's disease): a case report. JS Gell, MW Stannard, DM Ramnani, and KD Bradshaw Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center at Dallas, Texas 75235-9032, USA. Juvenile granulosa cell tumor (JGCT) of the ovary has been reported to occur rarely in conjunction with Ollier's disease. We report a case of a 13-year-old girl who was noted to have a large abdominal mass at the time of excision of a symptomatic enchondroma of the right femur. Subsequent laparotomy at a tertiary care children's medical center identified a JGCT confined to the right ovary. Review of the literature reveals eight previous cases of JGCT in patients with Ollier's disease. The pathophysiology and possible common causes of both disorders is discussed.

86. Karger Publishers
syndrome associating macrocephaly, polyposis of the colon and subcutaneous lipomas 21, (b) Maffucci syndrome combining enchondromatosis and haemangioma and (c
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

87. Radiology Case 438-3114
The lesions have well demarcated endosteal margins. Diagnosis More information.
http://myweb.lsbu.ac.uk/~dirt/museum/438-3114.html
no history available
Analysis
There are defects in the phalanges with some elevation of the edges, indicating expanding lesions in the bone. The lesions have well demarcated endosteal margins. Diagnosis: Enchondromatosis, acroform, distal, expression. ian@idmhome.demon.co.uk

88. Title
The summary for this Arabic page contains characters that cannot be correctly displayed in this language/character set.
http://www.emro.who.int/umd/BrowsingDic.asp?PageNo=7&Char=E

89. $B9|!&4X@a(J
The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set.
http://www2.biglobe.ne.jp/~msojiro/senmonni/bone.html
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