Telephone Receiver Femur
Michael E. Mulligan in Classic Radiologic Signs, 2020
Thantophoric dwarfism (thanatophoric dysplasia) was described in 1967 by Pierre Maroteaux and colleagues1 (Hopital des Enfants-Malades, Paris). They reported their findings in four cases and discussed the differential diagnostic features especially with regard to achondroplasia. One of the features they emphasized in this new disorder was the extreme shortening of the long bones. They also described the abnormal curvature of the diaphysis and the cupping, or flaring, and irregularity of the metaphysis (Figure 1). Four years later these abnormal features of the femurs were characterized as resembling a telephone receiver (Figure 2) by Joseph A. Bailey II (Johns Hopkins University) in his 1971 review article entided, Forms of Dwarfism Recognizable at Birth. Bailey said, ‘Affected individuals can be diagnosed even in utero on the basis of their characteristic bony deformities. Femurs shaped like ‘telephone receivers’ are an obvious feature.’2 Simply put by Bailey, ‘that’s the way it appeared to me’ (personal communication).
Disorders of bone and connective tissue
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
The major causes of lethal newborn dysplasia are listed in Table 16.1. Some are invariably fatal, others not so. Sensitive ultrasound scanning is now of real help in prenatal diagnosis for this group; serial measurements are of particular value. Radiographs should always be taken of a stillbirth suspected of falling in this group because this may greatly assist the making of a specific diagnosis. Osteogenesis imperfecta congenita can be easily mistaken for a lethal newborn dysplasia. Although a number of disorders in this group follow autosomal recessive inheritance, the most common, thanatophoric dwarfism, is usually sporadic and shows de novo mutations in the fibroblast growth factor gene FGFR3 (in which other mutations cause achondroplasia and hypochondroplasia). Heterogeneity or mosaicism may well be responsible for the few recurrent cases that have occurred.
Congenital skeletal abnormalities
Asim Kurjak in CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Thanatophoric dysplasia, which is the most common form of fatal neonatal dwarfism, also exhibits characteristic ultrasonic findings. Besides hydramnios, which is a constant associated symptom, there is marked thickening of soft tissue, and the thorax is abnormally small when compared to the large and protuberant abdomen and large head. The extremities are short and the proximal part is more severely affected (rhizomelic dwarfism) (Figures 8 to 11). Thoracic dysplasia is also noted in congenital hypophosphatasia, short rib polydactyly syndrome, osteogenesis imperfecta, or achondrogenesis and regularly suggests early neonatal death (Figures 12 and 13).
Emerging therapies for Achondroplasia: changing the rules of the game
Published in Expert Opinion on Emerging Drugs, 2021
Smitha Kumble, Ravi Savarirayan
The future of the field includes the possibility of combination drug therapies to maximize clinical benefit and the emergence of gene therapies for achondroplasia. It is likely that these therapies might also be of benefit to other related skeletal dysplasia such as hypochondroplasia and thanatophoric dysplasia and potentially to other children with idiopathic forms of short stature, irrespective of their genetic etiology.
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months
Published in Fetal and Pediatric Pathology, 2018
Jeon Soo-kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun
Maroteaux et al. first described thanatophoric dwarfism in 1967 (9). Patients with this disorder die soon after birth, as indicated by the Greek term “thanatophoric,” meaning “death bearing.” TD was classified as group 1, that is, the FGFR3 group, based on new molecular and pathogenic insights in the 2006 revision (6).
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.
Related Knowledge Centers
- Dysplasia
- Foramen Magnum
- Skeleton
- Thorax
- Lung
- Rib Cage
- Forehead
- Rhizomelia
- Kleeblattschaedel
- Congenital Vertebral Anomaly