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Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature.

Kaissi AA, Roetzer K, Klaushofer K, Grill F - Cases J (2008)

Bottom Line: These bone shortenings were associated with bone bending, curving and rhizomelia of the upper limbs with significant macrodactyly.Limitations in articular movements were present.Ascertainment of the mode of inheritance in our present patient was difficult because of insufficient family history and parents declined clinical/radiographic documentation.

View Article: PubMed Central - HTML - PubMed

Affiliation: Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria. ali.alkaissi@osteologie.at.

ABSTRACT

Background: Enchondromatosis represent a heterogenous group of disorders. Spranger et al attempted a classification into 6 types: Ollier disease, Maffuci syndrome, metachondromatosis, spondyloenchondrodysplasia, enchondromatosis with irregular vertebral lesions, and generalized enchondromatosis. Halal and Azouz added 3 tentative categories to the 6 in the classification of Spranger et al.

Case presentation: We report on a 15-year-old boy with acrofrom upper limbs and mixed appearance of radiolucency, cysts and striae of fibro-chondromatosis. Lower limbs (femoral, tibial and fibular dysplasia showed enlarged metaphyses near the knees bilaterally) were present. Additional features of short stature, macrocephaly, facial dysmorphism, and generalised platyspondyly have been encountered. These bone shortenings were associated with bone bending, curving and rhizomelia of the upper limbs with significant macrodactyly. Limitations in articular movements were present. The forearm deformities were similar to those observed in hereditary multiple exostosis.

Conclusion: The acrofrom upper limbs with mixed appearances of radiolucencies, cysts and striae of fibro-chondromatosis are the basic features of type I1Spranger. The constellation of facial dysmorphic features and significant vertebral abnormalities in our present patient were not compatible with the above-mentioned type of enchondromatosis. Our report widens the knowledge of disorders characterised by enchondromatosis. Ascertainment of the mode of inheritance in our present patient was difficult because of insufficient family history and parents declined clinical/radiographic documentation.

No MeSH data available.


Related in: MedlinePlus

Anteroposterior lower limb radiograph of the distal femoral, proximal tibial showed enlarged metaphysis near the knees associated with striae of fibro-chondromatosis. The foot radiograph showed macrodactyly and severe deformities associated with dysplastic 2nd, 4th and 5th metatarsals respectively. Note transverse fracture (secondary to minimal trauma) over the proximal phalange of the 3rd toe.
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Figure 4: Anteroposterior lower limb radiograph of the distal femoral, proximal tibial showed enlarged metaphysis near the knees associated with striae of fibro-chondromatosis. The foot radiograph showed macrodactyly and severe deformities associated with dysplastic 2nd, 4th and 5th metatarsals respectively. Note transverse fracture (secondary to minimal trauma) over the proximal phalange of the 3rd toe.

Mentions: At age of 15 years he was found to be severely short with rhizomelic upper limb. His height was 140 cm (-3SD). His head circumference was 58 cm (75th percentile). He had macrocephaly, a course dysmorphic facies (frontal bossing, downslanting palpebral fissures, hypertelorism, long philtrum, broad and large nose and macrostomia). There was generalized ligamentous hyperlaxity associated with genu valgum, valgus ankles and pes planus. Short stature and rhizomelia were evident (fig 1). Radiologically, The anteroposterior hands and forearms radiograph showed irregularly expanded metaphyses and shortened diaphyses were curved over the perimetaphyseal region. Ovoid, cystic and highly radiolucent lesions, elongated parallel to the major axis of the bone, originating near the physis and migrating towards the diaphyses with growth. Shortenings, associated with bone bending causing effectively the development of Madelung's-like deformity (fig 2). Anteroposterior pelvic radiograph showed coxa valga associated with defective modeling of the femoral necks and extensive striae of fibro-chondromatosis (fig 3). Anteroposterior Lower limb- distal femoral, and proximal tibial radiograph showed enlarged metaphysis near the knees associated with striae of fibro-chondromatosis. The foot radiograph showed macrodactyly and severe deformities associated with dysplastic 2nd, 4th and 5th metatarsals respectively. Note pathological fracture (secondary to minimal trauma) over the proximal phalange of the 3rd toe (fig 4). Lateral spine radiograph showed severe lytic changes with extensive irregularities of the anterior/posterior end plates (fig 5).


Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature.

Kaissi AA, Roetzer K, Klaushofer K, Grill F - Cases J (2008)

Anteroposterior lower limb radiograph of the distal femoral, proximal tibial showed enlarged metaphysis near the knees associated with striae of fibro-chondromatosis. The foot radiograph showed macrodactyly and severe deformities associated with dysplastic 2nd, 4th and 5th metatarsals respectively. Note transverse fracture (secondary to minimal trauma) over the proximal phalange of the 3rd toe.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2600790&req=5

Figure 4: Anteroposterior lower limb radiograph of the distal femoral, proximal tibial showed enlarged metaphysis near the knees associated with striae of fibro-chondromatosis. The foot radiograph showed macrodactyly and severe deformities associated with dysplastic 2nd, 4th and 5th metatarsals respectively. Note transverse fracture (secondary to minimal trauma) over the proximal phalange of the 3rd toe.
Mentions: At age of 15 years he was found to be severely short with rhizomelic upper limb. His height was 140 cm (-3SD). His head circumference was 58 cm (75th percentile). He had macrocephaly, a course dysmorphic facies (frontal bossing, downslanting palpebral fissures, hypertelorism, long philtrum, broad and large nose and macrostomia). There was generalized ligamentous hyperlaxity associated with genu valgum, valgus ankles and pes planus. Short stature and rhizomelia were evident (fig 1). Radiologically, The anteroposterior hands and forearms radiograph showed irregularly expanded metaphyses and shortened diaphyses were curved over the perimetaphyseal region. Ovoid, cystic and highly radiolucent lesions, elongated parallel to the major axis of the bone, originating near the physis and migrating towards the diaphyses with growth. Shortenings, associated with bone bending causing effectively the development of Madelung's-like deformity (fig 2). Anteroposterior pelvic radiograph showed coxa valga associated with defective modeling of the femoral necks and extensive striae of fibro-chondromatosis (fig 3). Anteroposterior Lower limb- distal femoral, and proximal tibial radiograph showed enlarged metaphysis near the knees associated with striae of fibro-chondromatosis. The foot radiograph showed macrodactyly and severe deformities associated with dysplastic 2nd, 4th and 5th metatarsals respectively. Note pathological fracture (secondary to minimal trauma) over the proximal phalange of the 3rd toe (fig 4). Lateral spine radiograph showed severe lytic changes with extensive irregularities of the anterior/posterior end plates (fig 5).

Bottom Line: These bone shortenings were associated with bone bending, curving and rhizomelia of the upper limbs with significant macrodactyly.Limitations in articular movements were present.Ascertainment of the mode of inheritance in our present patient was difficult because of insufficient family history and parents declined clinical/radiographic documentation.

View Article: PubMed Central - HTML - PubMed

Affiliation: Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria. ali.alkaissi@osteologie.at.

ABSTRACT

Background: Enchondromatosis represent a heterogenous group of disorders. Spranger et al attempted a classification into 6 types: Ollier disease, Maffuci syndrome, metachondromatosis, spondyloenchondrodysplasia, enchondromatosis with irregular vertebral lesions, and generalized enchondromatosis. Halal and Azouz added 3 tentative categories to the 6 in the classification of Spranger et al.

Case presentation: We report on a 15-year-old boy with acrofrom upper limbs and mixed appearance of radiolucency, cysts and striae of fibro-chondromatosis. Lower limbs (femoral, tibial and fibular dysplasia showed enlarged metaphyses near the knees bilaterally) were present. Additional features of short stature, macrocephaly, facial dysmorphism, and generalised platyspondyly have been encountered. These bone shortenings were associated with bone bending, curving and rhizomelia of the upper limbs with significant macrodactyly. Limitations in articular movements were present. The forearm deformities were similar to those observed in hereditary multiple exostosis.

Conclusion: The acrofrom upper limbs with mixed appearances of radiolucencies, cysts and striae of fibro-chondromatosis are the basic features of type I1Spranger. The constellation of facial dysmorphic features and significant vertebral abnormalities in our present patient were not compatible with the above-mentioned type of enchondromatosis. Our report widens the knowledge of disorders characterised by enchondromatosis. Ascertainment of the mode of inheritance in our present patient was difficult because of insufficient family history and parents declined clinical/radiographic documentation.

No MeSH data available.


Related in: MedlinePlus