Mesomelic dysplasia?Associated with other abnormalities

Löhr, Hans-Horst; Wiedemann, H. R.

doi:10.1007/bf00443264

“…Although usually congenital curly toe resolves spontaneously, it is important to distinguish it from other minor digital anomalies such as overlapping or amputation of digits, both of which may be confused with congenital curly toe on prenatal ultrasound. Unlike congenital curly toe, overlapping toe may be associated with other congenital anomalies or syndromes18–20 and early treatment may be necessary21. Amputation of a digit usually results from the amniotic bands sticking, tangling, and disrupting the fetal part22, which suggests an amniotic band syndrome.…”

Section: Discussionmentioning

confidence: 99%

Congenital curly toe of the fetus

Cho

¹

,

Park

²

,

Kim

³

et al. 2004

Ultrasound in Obstet & Gyne

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“…Additional clinical and radiographic findings such as involvement of the proximal or distal limb segments, vertebral or craniofacial anomalies, or other skeletal malformations are used to distinguish further one disorder from another. The classification of the mesomelic dysplasias is complicated further by disorders with mesomelic limb shortness as a secondary characteristic, such as the mesomelia found in the atelosteogenesis syndromes (AO) [Löhr and Wiedemann, 1981;Maroteaux et al, 1982;Sillence et al, 1982;Sillence et al, 1987;Stern et al, 1990;Taybi and Lachman;. We present the clinical, radiographic, histologic, and ultrastructural findings in a fetus with a novel form of mesomelic dysplasia.…”

Section: Introductionmentioning

confidence: 98%

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II

Brodie

¹

,

Lachman

²

,

Crandall

³

et al. 1998

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The mesomelic chondrodysplasias are a heterogeneous group of dwarfing disorders characterized by shortness of the middle segments of limbs. We report on a 25-week fetus with disproportionate shortness of limbs with an apparently distinct form of mesomelic dysplasia. Radiographic findings at necropsy included ulnar deviation of hands, talipes equinovarus, distal tapering of the humeri, and hypoplastic fibulae, radii, and ulnae. Chondro-osseous morphology showed mild shortness of the physeal columns, overgrowth of perichondral bone, peripheral ingrowth of mesenchymal cells into the physis, and numerous areas of fibrillar degeneration with rings of collagen surrounding the chondrocytes. Ultrastructural findings included a degenerated territorial matrix, pericellular halos of collagen, and dilated loops of rough endoplasmic reticulum in chondrocytes. The radiographic appearance of the long bones is distinct from that of previously described mesomelic dysplasias. The chondro-osseous morphologic findings and the distal tapering of the humerus are somewhat reminiscent of atelosteogenesis type II, but the pattern of matrix degeneration and the presence of inclusion bodies in the chondrocytes distinguish it from disorders of sulfate transport.

show abstract

“…Additional clinical and radiographic findings such as involvement of the proximal or distal limb segments, vertebral or craniofacial anomalies, or other skeletal malformations are used to distinguish further one disorder from another. The classification of the mesomelic dysplasias is complicated further by disorders with mesomelic limb shortness as a secondary characteristic, such as the mesomelia found in the atelosteogenesis syndromes (AO) [Löhr and Wiedemann, 1981;Maroteaux et al, 1982;Sillence et al, 1982;Sillence et al, 1987;Stern et al, 1990;Taybi and Lachman;. We present the clinical, radiographic, histologic, and ultrastructural findings in a fetus with a novel form of mesomelic dysplasia.…”

Section: Introductionmentioning

confidence: 99%

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II

Brodie¹,

Lachman²,

Crandall³

et al. 1998

View full text Add to dashboard Cite

The mesomelic chondrodysplasias are a heterogeneous group of dwarfing disorders characterized by shortness of the middle segments of limbs. We report on a 25-week fetus with disproportionate shortness of limbs with an apparently distinct form of mesomelic dysplasia. Radiographic findings at necropsy included ulnar deviation of hands, talipes equinovarus, distal tapering of the humeri, and hypoplastic fibulae, radii, and ulnae. Chondro-osseous morphology showed mild shortness of the physeal columns, overgrowth of perichondral bone, peripheral ingrowth of mesenchymal cells into the physis, and numerous areas of fibrillar degeneration with rings of collagen surrounding the chondrocytes. Ultrastructural findings included a degenerated territorial matrix, pericellular halos of collagen, and dilated loops of rough endoplasmic reticulum in chondrocytes. The radiographic appearance of the long bones is distinct from that of previously described mesomelic dysplasias. The chondro-osseous morphologic findings and the distal tapering of the humerus are somewhat reminiscent of atelosteogenesis type II, but the pattern of matrix degeneration and the presence of inclusion bodies in the chondrocytes distinguish it from disorders of sulfate transport.

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Mesomelic dysplasia?Associated with other abnormalities

Cited by 12 publications

References 5 publications

Congenital curly toe of the fetus

Congenital curly toe of the fetus

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II

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