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Congenital thoracic deformities
Published in Prem Puri, Newborn Surgery, 2017
Konstantinos Papadakis, Robert C. Shamberger
The syndrome has variable expression and extent of pulmonary involvement, resulting in a wide range of survival.55 Lung hypoplasia is due to a restricted thoracic cage and may be the cause of death in infancy. The most common presentation is hypoventilation, caused by impaired chest expansion. Frequency of the condition is approximately 1 per 100,000–130,000 live births.56 Reports have described the ability to diagnose fetuses suspected to have Jeune syndrome with prenatal ultrasonography. 57,58 The pathological findings in autopsy cases are variable and show a range of pulmonary development; in most cases, the bronchial development is normal, and there is a variable decrease in alveolar divisions.59
Diagnosis of fetal skeletal dysplasias
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
When disproportion mainly affects the thorax, the following algorithm should be applied: Is the thorax extremely small (thanatophoric dysplasia)?Is the thorax long and narrow (Jeune syndrome)?Are the ribs extremely short (short rib polydactyly syndromes)?Are there rib fractures (osteogenesis imperfecta type II)?Are there gaps within the ribs (cerebro-costo-mandibular syndrome)?Are there fused ribs (spondylocostal dysplasia)?Is there clavicular aplasia, hypoplasia, or pseudarthrosis (cleidocranial dysplasia)?Are the scapulae abnormal? (Hypoplasia or absence in campomelic dysplasia)
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
Published in Fetal and Pediatric Pathology, 2022
Ciliopathies with major skeletal involvement are related to dysfunction of primary cilia which coordinate the transmission of signals from a cell’s exterior to its interior, especially those of the Sonic and Indian hedgehog signaling pathways that are in part involved in chondrogenesis and ossification. Histopathologically, both growth plate and endochondral ossification are altered with variable degrees of severity [15,17,18]. In Verma-Naumoff syndrome, the growth plate varies in appearance, from area to area, sometimes entirely absent, and the diaphyseal bone trabeculae are thick with lateral or medial extension of the growth cartilage into the diaphysis. These alterations are of lesser severity in the allelic variant, Jeune syndrome. Consequently, radiologic irregularity of the long bones metaphyses varies in severity; the metaphyseal spikes are prominent in Verma-Naumoff syndrome, giving a ball-in-cone appearance, whereas they are less evident in Jeune syndrome. The variable appearance of the growth plate (short or absent proliferative zone, short hypertrophic zone, poor columnar organization) and the abnormal ossification (thick diaphyseal bone trabeculae) are also observed in Ellis-Van Creveld and Majewski syndromes. In Ellis-Van Creveld syndrome, additional alterations are observed including persisting islands of unossified cartilage in diaphysis and metaphyseal radial arrangement of the bone trabeculae. Radiologically, the metaphyses have different shapes: they are clubbed in Ellis-Van Creveld, with cone-shaped metaphyses of the distal phalanges, and rounded with extremely short tibiae in Majewski syndrome. Although the phenotype is dominated by skeletal impairment, visceral disorders involving the kidney, liver, heart and brain, should be thoroughly investigated with special consideration of short rib-polydactyly syndromes [15,17,18]. Polydactyly, short ribs and trident acetabula are common abnormalities of these syndromes, though these entities are characterized by specific diagnostic features. Jeune syndrome is associated with moderate phenotypic presentation compared to Verma-Naumoff syndrome. A clue to the diagnosis, in addition to the angular appearance of metaphyses, is the identification of biliary fibroadenomatosis. Ellis-Van Creveld syndrome is characterized by dysplastic/hypoplastic teeth and nails, labiogingival adhesions and heart defects, especially interatrial communication, that occur in about 60% of cases. Majewski syndrome is typically associated with polysyndactyly, multiple gingival frenulae and lingual hamartomas, laryngeal anomalies and visceral malformations including short small bowel, biliary fibroadenomatosis and multicystic dysplastic kidneys.