China
Africa
Explore chapters and articles related to this topic
Congenital thoracic deformities
Published in Prem Puri, Newborn Surgery, 2017
Konstantinos Papadakis, Robert C. Shamberger
Jeune, in 1954, first described a pair of siblings with a narrow rigid chest and multiple cartilage anomalies.50 The syndrome is also known as asphyxiating thoracic dysplasia (ATD) and thoracic–pelvic–phalangeal dystrophy.51 This is a rare autosomal recessive disorder. 52,53 Other manifestations include dwarfism with short ribs and short limbs—with radiographic changes in the ribs and pelvis. There is some association with abnormalities of the kidneys, liver, pancreas, and retina.54 Variable skeletal and radiographic severity occurs in this syndrome. Its most prominent feature is a narrow “bell-shaped” thorax and protuberant abdomen. The thorax is narrow in both the transverse and sagittal axes and has little respiratory motion due to the horizontal direction of the ribs (Figure 36.6). The ribs are short and wide, and the splayed costochondral junctions barely reach the anterior axillary line. The costal cartilage is abundant and irregular like a rachitic rosary. Microscopic examination of the costochondral junction reveals disordered and poorly progressing endochondral ossification, resulting in decreased rib length.
Foetal thoracic hypoplasia: concomitant anomalies and neonatal outcomes
Published in Journal of Obstetrics and Gynaecology, 2022
Munip Akalin, Oya Demirci, Guher Bolat, Ozge Kahramanoglu, Mucize Eric Ozdemir, Ali Karaman
Foetal thoracic hypoplasia refers to severe narrowing of the rib cage in intrauterine life. It can develop primarily as a result of the developmental defect of the thoracic skeleton (sternum and ribs) or thoracic muscles (diaphragm and intercostal muscles) (Paladini and Volpe 2014). Although it is mostly accompanied by skeletal dysplasia, it may rarely develop as a result of foetal neuromuscular diseases and bilateral pulmonary hypoplasia. The most common types of skeletal dysplasias that cause thoracic hypoplasia are thanatophoric dysplasia type 1, achondrogenesis type 2, hypophosphatasia, asphyxiating thoracic dysplasia and short rib-polydactyly syndrome (Yang et al. 1987; Gregersen and Savarirayan 1993; Karczeski and Cutting 1993; Mornet and Nunes 1993). Also, neuromuscular diseases such as foetal akinesia deformation sequence (FADS) can cause this condition (Hellmund et al. 2016). Thoracic hypoplasia is usually diagnosed in the first trimester or early second trimester (Syngelaki et al. 2019). It can be suspected while evaluating the heart in four-chamber view and the thorax in the midsagittal plane (Figure 1). In the presence of such suspicion, the nomograms of the thoracic circumference are used in the diagnosis of thoracic hypoplasia (Chitkara et al. 1987). Thoracic hypoplasia progresses lethally when diagnosed in foetal life, as it results in pulmonary hypoplasia regardless of the underlying cause (Krakow et al. 2009). However, it is important to identify other system anomalies that accompany thoracic hypoplasia to determine possible syndromes. Identification of these syndromes help us to predict both foetal and neonatal prognosis and to determine the risk of recurrence in subsequent pregnancies. Although skeletal dysplasias with thoracic hypoplasia are well defined in the literature, data on concomitant foetal anomalies in these cases are quite limited. In addition, data such as the perinatal outcomes of foetuses with thoracic hypoplasia, the survival time of newborns and the length of stay in the neonatal intensive care unit (NICU) are quite limited. In our study, we investigated other system anomalies accompanying thoracic hypoplasia diagnosed in the prenatal period and perinatal results of foetuses with thoracic hypoplasia. We aim to contribute to the literature on the frequency of concomitant anomalies in thoracic hypoplasia and the outcomes of these pregnancies.