China
Africa
Explore chapters and articles related to this topic
Roberts Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Individuals showing the following clinical symptoms should be suspected of RBS: (i) prenatal growth retardation (mild to severe), (ii) limb malformations (bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening; upper limbs are more severely affected than lower limbs; other limb malformations include oligodactyly with thumb aplasia or hypoplasia, syndactyly, clinodactyly, and elbow and knee flexion contractures), (iii) craniofacial abnormalities (bilateral cleft lip and/or palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, underdeveloped ala nasi, and ear malformation).
Congenital skeletal abnormalities
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
All systemic skeletal dysplasias can roughly be divided into two groups: mesomelic dwarfism, which affects more severely the middle part of the extremity (tibia, radius), and rhizomelic dwarfism, affecting the proximal part (femur, humerus). A common finding is the marked shortening of all four fetal extremities during the second trimester in an otherwise normal pregnancy (Figure 2 and 3). Although it is rarely possible and not necessary to differentiate between various types of systemic skeletal dysplasia, some anomalies present characteristic ultrasonic findings. Osteogenesis imperfecta is caused by disturbances in osteoid formation and results in bone hypomineralization. A pathognomonic finding in utero is the marked bowing of shortened bones or fractures. Hypomineralization can be seen occasionally as reduced bone reflectivity. Hypomineralization can also be observed in cases of achondrogenesis, but long bone shortening is regularly more severe than in osteogenesis imperfecta (Figure 4 to 7).
Impairment: Dwarfism, disfigurement, deformities, and shortening
Published in Ramar Sabapathi Vinayagam, Integrated Evaluation of Disability, 2019
Dwarfism may be rhizomelic, mesomelic, and acromelic according to the distribution of anomaly. In rhizomelic dwarfism, shortening confines to the proximal segments namely the humerus and femur, for example, achondroplasia, hypochondroplasia, spondyloepiphyseal dysplasia congenita, congenital short femur, and so on. In mesomelic dwarfism, shortening confines to the middle segments, that is, radius, ulna, tibia, and fibula, for example, Robinow syndrome, Reinhardt syndrome, and so on. In acromelic shortening, the shortening confines to the distal segments namely metacarpals and phalanges, for example, acrodysostosis and peripheral dysostosis. In micromelia, shortening limits to the entire extremity, for example, achondrogenesis, fibrochondrogenesis, Roberts syndrome, and so on. Short stature with shortening of trunk occurs in Morquio syndrome, Kniest syndrome, spondyloepimetaphyseal dysplasia, and metatropic dysplasia.
Important considerations in pregnant patients with lupus nephritis
Published in Expert Review of Clinical Immunology, 2018
Gabriella Moroni, Claudio Ponticelli
Its use in the first trimester of pregnancy can cause growth retardation, absence or hypoplasia of the frontal bones, craniosynostosis, large fontanelle, ocular hypertelorism, short palpebral fissures, wide nasal bridge, malformed and low-set ears, and micrognathia. Skeletal anomalies are frequent consisting of syndactyly, mesomelic shortening of theforearms, missing ribs, dislocated hips, and talipes equinovarus [91]. It may be used for termination of ectopic pregnancy.
Pseudo-Roberts Syndrome: An Entity or Not?
Published in Fetal and Pediatric Pathology, 2022
Behzad Salari, Louis P. Dehner
Roberts syndrome is one of the most common of the multiple limb deficiency syndromes [1], and is characterized by pre- and postnatal growth restriction, craniofacial anomalies, and mesomelic symmetric limb reduction. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern [3]. Here we report a male stillborn with tetra-phocomelia and no ESCO2 mutation.