China
Africa
Explore chapters and articles related to this topic
Evaluation of Congenital Limb Deficiencies
Published in Nirmal Raj Gopinathan, Clinical Orthopedic Examination of a Child, 2021
Nirmal Raj Gopinathan, Pratik M. Rathod
The classification of limb deficiency disorders has evolved with time. The difficulty in classifying these disorders is due to the variety of presentations. There are two groups of diseases: skeletal dysostosis, which is fixed at birth, and the other being skeletal dysplasia, which is an ongoing abnormality of the skeletal system. But some disorders are such that they share common features of both spectrums of the disorder.6 Numerous classification systems exist for congenital limb deficiencies. But the most commonly used classification system was created by Frantz et al., which is given in Table 4.1.7
The cases
Published in Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young, Paediatric Radiology for MRCPCH and FRCR, 2020
Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young
Absent radius is associated with: — Thromboctyopenia–Absent Radius (TAR) syndrome.— Fanconi’s anaemia.— Holt-Oram syndrome.— Vertebral abnormalities, Anal atresia, TracheoEsophageal fistula, Renal or Limb abnormalities (VATER)/VACTERL.— Acrofacial dysostosis.— Thalidomide embryopathy.
Congenital skeletal abnormalities
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
The international classification divides the skeletal dysplasias into two major groups: the osteochondrodysplasias (abnormal growth and development of cartilage and/or bone) and the dysostoses (malformations of individual bones, singly or in combination). The osteochondrodysplasias are further divided into Defects of growth of tubular bones and/or spine (e.g., achondroplasia), which are frequently referred to as chondrodystrophies.Disorganized development of cartilage and fibrous components of the skeleton (e.g., multiple cartilaginous exostoses).Abnormalities of density and/or cortical diaphyseal structure and/or metaphyseal modeling (e.g., osteogenesis imperfecta).
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
Published in Fetal and Pediatric Pathology, 2022
The skeletal dysplasias are very uncommon if they are considered separately. The prevalence of the overall entities is, however, non-negligible, affecting approximately 1:5000 total births [12]. It is not possible to estimate the prevalence of these diseases in our country because of the lack of a national skeletal dysplasia registry. It is, however, relevant to estimate this prevalence among stillbirths and neonatal deaths that were examined and especially showed severe or lethal forms of FSD. Based on our series, this prevalence was estimated at 1.2%. The significant prevalence of the FSD along with the high parental consanguinity rate (noted in nearly 40% of cases) should alert the health authority to the need for a national register of skeletal dysplasias to determine accurate prevalence of these disorders in our country. The previously reported prevalences were mainly estimated from overall the births. Barkova et al. [3] reported a prevalence of FSD of 4.3:100 fetal autopsies. They, however, included the dysostoses.
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome
Published in Acta Oto-Laryngologica, 2019
Xiaohong Li, Yu Su, Shasha Huang, Bo Gao, Dejun Zhang, Xiaobin Wang, Qin Gao, Hong Pang, Yan Zhao, Yongyi Yuan, Pu Dai
The proband, a 26-year-old woman, was the first daughter of nonconsanguineous parents. She was noted as having a marked hypoplastic zygomatic arch, mandibular micrognathia with retrognathia, a prominent nose, downward slanting palpebral fissures, coloboma of the lower eyelids, and hearing loss. In addition, there was a family history of unilateral or bilateral conductive hearing loss in several family members (I:1, II:2, II:4, II:5, and III4), who did not have additional signs of craniofacial dysostosis. Figure 1(A) shows the pedigree structure of the family including six hearing impaired members: I:1 (89 years old), II:2 (60 years old), II:4 (57 years old), II:5 (42 years old), III:4 (21 years old), and III7(the proband). Pure-tone thresholds of the proband confirmed bilateral conductive hearing loss, with a hearing threshold of approximately 50 dB (Figure 2(A)), requring hearing aids. For affected subjects I:1 and III:4, electroaudiograms were unavailable. Targeted NGS revealed a previously reported heterozygous mutation in POLR1D (c.91C > T, NM_015972) in the proband (Figure 3(A)), a nonsense mutation located in exon3 that is predicted to cause a premature termination codon (p. Gln31X) resulting in POLR1D haploinsuffciency. The c.91C > T mutation was further identified in the proband and in other hearing-impaired subjects (I:1, II:2, II:4, II:5, and III:4, Figure 3(A)) by Sanger sequencing, consistent with phenotype segregation for clinical TCS. However, the mutation was also found in subject III8, who is phenotypically normal (Figure 3(A)). Figure 4(A) shows the facial phenotypes of the family members and the temporal bone CT scans of the proband.