1: Clin Orthop Relat Res. 1984 Nov;(190):217-9. Related Articles, Links Hereditary multiple exostoses. Report of a family. Crandall BF, Field LL, Sparkes RS, Spence MA.


In a family with hereditary multiple exostoses (diaphyseal aclasis), six generations are known to have been affected. Thirty-three of 85 family members have had the disorder. This condition affects the long bones, pelvis, scapulae, and ribs, and the exostoses continue to enlarge until epiphyseal fusion occurs. Associated deformities, including short stature and malformations of the wrist and ankle, were found in 72%. Fifty percent of affected individuals were moderately or severely handicapped; women and men were affected with equal severity. Exostoses were usually noted by two years and always by five years of age. Hereditary multiple exostoses is inherited as an autosomal dominant condition and is inherited as an autosomal dominant condition and in this familial study the gene showed 93% penetrance. Only one individual appeared clinically normal but nevertheless transmitted the gene to offspring. Red cell antigens, enzymes, and serum enzymes were studied, but none were positive for linkage to the gene for this disease. The frequency of sarcomatous change varies between 3% and 25% in reports in the literature, but no cases occurred in six generations of this family. : Tidsskr Nor Laegeforen. 1998 Oct 10;118(24):3769-72.

Links [Hereditary exostoses--presentation of a family case] [Article in Norwegian]

• Hayes TB, • Ramstad K, • Nielsen EW. Kirurgisk avdeling, Nordland Sentralsykehus.

In this article we present a Norwegian family with hereditary multiple exostoses and a review of relevant literature. 21 family members were examined; ten males and six females had multiple exostoses, the youngest from six months of age. The exostoses had led to compression of nerves, disturbance of bone growth with shortening and bowing of the forearm bones, and valgus deformity of the knee and ankle. Physical function and quality of life was generally well preserved. Contrary to most reports, nearly half of the patients had allegedly noticed growth or debut of exostoses in adulthood. Almost half of the patients had had the exostoses removed surgically twice, (median value). Malignant transformation of exostoses has not been observed in the family. PMID: 9816946 [PubMed - indexed for MEDLINE]

1: Clin Genet. 1997 Jul;52(1):12-6. Links Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. • Legeai-Mallet L, • Munnich A, • Maroteaux P, • Le Merrer M. Departement de Genetique and Unite de Recherches sur les Handicaps Genetiques de l'Enfant INSERM U-393, Hopital des Enfants-Malades, Paris, France. Mallet@Necker.Fr


Hereditary multiple exostosis (EXT) is an autosomal dominant skeletal disorder characterized by the formation of cartilage-capped prominences developing from the juxta-epiphyseal regions of the long bones and causing orthopedic deformities and occasionally sarcomatous degeneration. Reviewing a large cohort of 175 EXT patients referred to us over the last 40 years (1955-1995), we found 109 familial forms (62%) and 66 isolated cases (38%). The disease is consistently diagnosed before the age of 12 years and the risk of malignancy, although increased, is quite modest in our series (0.57%). The observation of seven unaffected individuals (six females, one male) with a family history and affected offspring supports the incomplete penetrance of the disease. Moreover, the observation of an unequal sex-ratio with a preponderance of males among probands in this series (103:72, p<0.02) and in all series reported to date (198:133, p<0.001) gives support to the variable penetrance of EXT genes among sexes. Whether this incomplete penetrance is associated with one of the disease genes recently identified in EXT is currently under investigation.

Manifestações de exostoses multiplas

Manifestations of Hereditary Multiple Exostoses

Página JAAOS March/April 2005: Abstracts in Portuguesee 1 de 3
http://www5.aaos.org/jaaos/portuguese/ma2005po.cfm 17-05-2011
Jonathan R. Stieber, MD, and John P. Dormans, MD
Manifestações das Exostoses Hereditárias Múltiplas
O osteocondroma solitário, um tumor ósseo pediátrico comum, é uma exostose revestida de cartilagem. A exostose
múltipla hereditária é um distúrbio autossômico dominante, manifestado pela presença de osteocondromas múltiplos.
A análise da ligação tem implicado em mutações na família de genes EXT, resultando em um erro na regulação da
proliferação e maturação normal de condrócitos, o que leva a um crescimento ósseo anormal. Embora as exostoses
sejam lesões benignas, elas são freqüentemente associadas com deformidades esqueléticas progressivas características
e podem causar sintomas clínicos. As deformidades mais comuns incluem baixa estatura, discrepâncias no
comprimento dos membros, deformidades em valgo do joelho e do tornozelo, assimetria da cintura escapular e pélvica,
encurvamento do rádio com desvio ulnar do punho e subluxação da articulação radiocapitelar. Para certas
deformidades, a cirurgia pode prevenir a progressão e prover a correção. Os pacientes com exostoses múltiplas
hereditárias têm um risco leve de transformação sarcomatosa da porção cartilaginosa da exostose.

ABC das exostoses

Artigo publicado pela The MHE Coalition
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Olmsted Falls, OH 44138
440-235-6325
www.mhecoalition.com

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