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Skull
Published in Amaka C Offiah, Christine M Hall, Radiological Atlas of Child Abuse, 2018
Amaka C Offiah, Christine M Hall
Normal variant findings include fissures and accessory sutures and these may be misinterpreted as fractures. Persistent membranous fissures are a common feature of the young infant’s skull. They gradually ossify with continued growth of the skull over weeks or months. Radiographically they appear as short (1–2 cm), tapering, radiolucent lines arising from and at right angles to, the sagittal or lambdoid sutures. Accessory sutures are most commonly present in the lambdoid bone. They are almost always bilaterally symmetrical and lack the clear-cut appearance and parallelism of fracture lines. Larger intrasutural or wormian bones may be present in the lambdoid suture and result in confusion with fractures. Wormian bones are present at birth and remain visible throughout childhood. Up to ten wormian bones are considered a normal variant finding.
Growth of the Cranial Vault
Published in D. Dixon Andrew, A.N. Hoyte David, Ronning Olli, Fundamentals of Craniofacial Growth, 2017
Isolated ossicles of variable size and shape within the cranial sutures and the fontanelles are called wormian or sutural bones (Figure 13.2). They are frequently found during childhood, usually in the lambdoid suture and in association with certain pathological conditions such as hydrocephaly, osteogenesis imperfecta, dysostosis cleidocranialis, hypothyroidism, healing rickets, and several trisomies (Gugliantini and Barbuti, 1984). Accessory lambdoidal suture bones are frequently observed in hydrocephalic human crania (Richards and Anton, 1991; Herring 1993) and in the cranial vault sutures of rats with provoked hydrocephaly (Young, 1959). It was suggested earlier that wormian bones develop in response to anomalous conditions in the sutures resulting from artificial deformation (Dorsey, 1897). According to Bennett (1965) the occurrence of wormian bones is associated with basi-occipital length growth, while El-Najjar and Dawson (1977) found that they are also present in 11.3% of fetal skulls, which suggests that their development is genetically controlled. They did not find any significant difference in the number of wormian bones between artificially deformed and undeformed control skulls, but the frequency of wormian bones in rats was higher in experimentally deformed crania, indicating that the genetic expression can be influenced extrinsically (Pucciarelli, 1974).
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: Bone density is normal or slightly reduced. In the skull there are multiple wormian bones, wide sutures and fontanelles. The biparietal diameter is relatively wide. The clavicles are short or absent or may have unilateral or bilateral pseudarthroses. Absence of clavicles results in a narrow upper thorax and a low shoulder girdle. In the spine there is some underossification of the neural arches and the bodies appear rounded. The ilia are narrow and vertical and the pubic rami short or even absent. There is often coxa valga and the capital femoral epiphyses appear rounded. In the hands there are variable changes with pseudoepiphyses of all the metacarpals, short middle and distal phalanges sometimes with cone-shaped epiphyses and there may be acro-osteolysis. Rarely long bone pseudarthroses occur. Cleidocranial dysplasia may be seen in association with hypophophatasia with a combination of radiographic features and with the biochemical markers. These patients have the additional findings of decreased bone density, long bone bowing and fracturing and sometimes kyphoscoliosis.
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
Published in Fetal and Pediatric Pathology, 2022
Three forms of OI were identified (Figure 5). The lethal form was associated with a very severe phenotype, including thin and translucent skin, round and soft skull with widely open fontanelles, extreme micromelia with limb deformities and broad short ribs resembling “bamboo”. Radiologic abnormalities included diffuse bone demineralization, short irregular ribs with multiple fractures and calluses, very short, stocky fractured long bones, severe platyspondyly and hypoplastic scapulae and iliac bones. Histologic features were consistent with rib fracture calluses, and poor irregular endochondral and intramembranous ossification with very thin, scarce and disorganized bone trabeculae, without alterations of the growth plate. The severe form of IO was characterized by less severely affected upper limbs, few or absence of rib fractures, and presence of multiple wormian bones. The moderate form of the IO was mainly diagnosed in those with bowing of the lower limbs with stocky slightly curved femurs, and the very characteristic “sword blades” appearance of the tibias.
Spontaneous extracranial arterial dissections in a case of patient with osteogenesis imperfecta
Published in International Journal of Neuroscience, 2021
XiaoJia Tang, Jing Jian, YuHan Luo, Hongyang Fan, PeiPei Liu, YingZhu Chen
A 48-year-old male with OI was admitted to the hospital due to left-side temporal headache, paroxysmal right limb weakness, and prolonged blurred vision experienced for a week. The headache was mainly manifested as left temporal parietal distended pain, which lasted for several hours at a time and subsides spontaneously. While the symptoms of numbness and weakness of the right limb were completely relieved after 3 h, the patient was clinically diagnosed with OI (type 1 A) given the presence of bone fragility, blue-tinged sclerae (Figure 1), family history (Figure 2), and bone X-ray findings (i.e. Wormian bone and low bone density). However, the patient did not present hypertension, diabetes mellitus, dyslipidemia, arrhythmia, or other cardiovascular diseases, nor he was under medications.
A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2)
Published in Fetal and Pediatric Pathology, 2019
Nasma K. Majeed, Diana Oramas, Valerie Lindgren, Steven Garzon, Dr. Elizabeth Wiley, Christopher Enakpene, Rajyasree Emmadi
The additional finding in our case is the balanced translocation. Reciprocal translocations represent one of the most common structural rearrangements observed in humans. The frequency range from 1/1000 to 1/673 [18]. Reciprocal translocations occur when two different chromosomes exchange segments and are more frequently inherited (70%) rather than de novo (30%) [19]. Literature suggests a more likely paternal source of such inheritance [20]. Although individuals who carry truly balanced reciprocal translocations are themselves usually clinically normal, they do have an increased risk for having children with intellectual disability and congenital anomalies, infertility or multiple spontaneous abortions due to unbalanced segregation at meiosis of the chromosomes involved. A gene disrupted or dysregulated at the breakpoint of the translocation may cause additional findings in the balanced carrier and offspring. Because the parents of this fetus have not been studied, we do not know whether the translocation is de novo or inherited. For the same reason, we also do not know if any gonadal mosaicism may have been a factor. Microarray analysis of the patient’s DNA did not reveal any losses or gains at the breakpoints. While there are no genes in the regions of the breakpoints that are candidates for involvement in OI, two genes in the 1p13 locus, CSF1 and NOTCH2 and the PAX1 gene at the 20p11.2 locus, are of speculative interest in this patient. The CSF1 gene encodes macrophage colony-stimulating factor, a critical cytokine for osteoclast formation and survival and has been identified as the strongest candidate gene for susceptibility for Paget’s disease of the bone [21]. Abnormalities of the NOTCH2 gene have been associated with Hadju–Cheney syndrome, in one case showing skeletal abnormalities including wormian bones, vertebral abnormalities, and serpentine fibula [22]. The PAX1 gene is a member of the paired box family of transcription factors, which play essential roles in pattern formation during embryogenesis and the development of the vertebral column [23]. This case emphasizes that the DNA abnormalities of OI type II are complex and perhaps not fully elucidated. Therefore, when prenatal findings suggest skeletal dysplasia, providers should be aware of the association between OI type II and c.3065G > T transversion in exon 42 of the COL1A1, to provide prompt postmortem diagnosis and proper pre-natal counseling with tailored follow up for future pregnancies. Nonetheless, the clinical significance of this mutation and translocation in future offspring remains uncertain; and, hence prospective follow up of these patients is paramount to answer this question.