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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Radiographic features: disproportionately large vault with virtually no ossification. There is severe micromelia with flared and cupped metaphyses. The short tubular bones are largely unossified. The feet are commonly externally rotated (in contrast to the talipes deformity seen in achondrogenesis type 1B). The ribs are short with multiple fractures giving a beaded appearance and the thorax small. In the spine the vertebral bodies are virtually absent and the pedicles appear parallel to each other. Occasionally there is a fine line of continuous calcification in the midline, probably in the longitudinal spinal ligament. The ilia are short and crescentic, concave inferiorly and there is absent ossification of the ischia and pubic bones.
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
Published in Fetal and Pediatric Pathology, 2022
Achondrogenesis type 1B was diagnosed based on very severe phenotype including extremely short limbs, narrow thorax, prominent, rounded abdomen, clubfeet and delayed ossification of the vertebral bodies and sacrum. Histologic examination showed non-homogeneous poor cartilage matrix, lacking the classic ground glass appearance with dense collagen rings around the chondrocytes, along with delayed and very poor ossification (Figure 9a–d). The moderate non-lethal form, corresponding to diastrophic dysplasia, was characterized by micromelia, clubfeet and hypoplasia of the first metacarpal that was oval shaped causing abduction of the thumbs (“hitchhiker thumbs”). Histologic examination showed non-homogeneous cartilage pericellular matrix with pale areas, disruption of the proliferative and hypertrophic zones by coarse collagen fibers and irregular invasion of the metaphyseal capillaries (Figure 9e–g).