A new type of achondrogenesis

Kozlowski, K.; Tsuruta, Tadashi; N, Taki; Tsunoda, I.; Ozawa, Heita; Hasegawa, Tadashi; Sillence, David

doi:10.1007/bf02386829

Cited by 4 publications

(1 citation statement)

References 5 publications

(7 reference statements)

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“…However, the unusual pelvic configuration and the chondro‐osseous morphology clearly distinguish this case from the known froms of achondrogenesis, namely types IA, IB, and II [Borochowitz et al, 1988; Godfrey et al, 1988] and pyknoachondrogenesis [Smith et al, 1981; Camera et al, 1986]. Kozlowski et al [1986] described a new case of achondrogenesis with bifid humeri but the pelvis was affected minimally. Distally bifid humeri are seen also in atelosteogenesis, type II (AO II), but the other radiographic manifestations seen in this case are not compatible with this diagnosis, and the chondro‐osseous morphology of AO II shows rings of collagen around chondrocytes [Sillence et al, 1997].…”

Section: Discussionmentioning

confidence: 86%

?Baby rattle? pelvis dysplasia

et al. 2001

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We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, absent vertebral body ossification, a unique "baby rattle" pelvic configuration with tall and broad ilia, absent endochondral ossification, regions of mesenchymal cells within the resting cartilage, and abnormal mesenchymal ossification.

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Section: Discussionmentioning

confidence: 86%

?Baby rattle? pelvis dysplasia

et al. 2001

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Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies

et al. 1999

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We report an apparently previously undescribed form of lethal osteosclerotic skeletal dysplasia in a 30-week male fetus with micromelic shortness of the limbs. Radiographic findings at necropsy included increased density in all bones, most marked in the skull, mandible, and pubis. The ribs were very short, abnormally modeled, and wide anteriorly. The vertebrae were posteriorly hypoplastic and wedged, particularly in the cervical and lumbar regions. The femora and tibiae were short with wide distal metaphyses, undermodeled diaphyses, and coxa vara. The humeri, radii, and ulnae were also short and undermodeled with proximal and distal flare. Chondro-osseous morphology showed short chondrocyte columns, extension of hypertrophic cells into the metaphysis, and overgrowth of perichondral bone. In the resting cartilage there were large chondrocytes containing a homogeneous material staining pink with von Kossa trichrome, gray with toluidine blue, and black with silver methenamine. The cortical bone was lacking and the trabecular bone was hypercellular, thick, and coarse. Ultrastructurally, the resting zone chondrocytes were large and round with condensed chromatin and dilated loops of rough endoplasmic reticulum. The radiographic and histopathologic findings in this case are unique and differ from those seen in other reported lethal osteosclerotic skeletal dysplasias.

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