PMC5973320_01
Patient phenotype and postmortem X-rays.. Notes: (A-C) Posterior, lateral, and frontal views. Patient phenotype shows flat face, short nose, protruding tongue and eyes, low-set ears, narrow bell-shaped thorax, and severe micromelia. (D, E) Postmortem X-ray. Lateral and frontal views showing deficient mineralization of the calvaria and vertebral bodies, unossified sacrum, hypoplastic thorax, and markedly short and beaded ribs with flared and spurred ends.
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Postmortem X-rays and autopsy were performed (Figure 1).
Fetal cartilage section stained with hematoxylin-eosin.. Notes: (A) Costochondral junction region magnified 4x reveals hypercellularity in the myxoid matrix. The fibrillary matrix tends to form rings around chondrocytes, simulating vacuolated cells. (B) Costochondral junction region magnified 10x reveals hypercellularity in the myxoid matrix. (C) Femoral region magnified 40x reveals hypercellularity in the myxoid matrix. (D) Femoral region magnified 40x reveals vacuolated chondrocytes.
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Pathological examination of the fetal sternum and femur tissue with hematoxylin-eosin staining demonstrated hypercellularity of bone and myxoid cartilage matrix; cytoplasmic inclusions were noted and described as "vacuolated chondrocytes" (Figure 2).