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Eye
Published in A. Sahib El-Radhi, Paediatric Symptom and Sign Sorter, 2019
Beware that entropion (inward-turning of the lid margin and lashes, trichiasis) often presents with irritability and can cause corneal damage. Urgent consultation with an ophthalmologist is required. Larsen syndrome (entropion, multiple joint dislocations, cleft palate and neurodisability) has to be excluded.
Kyphotic deformities of the spine
Published in Benjamin Joseph, Selvadurai Nayagam, Randall Loder, Ian Torode, Paediatric Orthopaedics, 2016
Cervical kyphosis is a feature of Larsen syndrome. The children may have marked changes on an MRI scan with cervical cord compression. They can be managed in a Papoose that will reduce the kyphosis and later graduate into a SOMI style brace for longer term. As time passes the kyphosis will reduce and the vertebral bodies gain height and a more normal shape (Figure 22.4).
FEVR findings in patients with Loeys-Dietz syndrome type II
Published in Ophthalmic Genetics, 2018
Mark A. Solinski, Michael P. Blair, Harry Dietz, David Mittelman, Michael J. Shapiro
The patient was born after a full-term gestation without family history of retinal disease. At birth, he showed dislocation of the left knee, bilateral clubfoot, atrial septal defect (ASD), and dislocation of C3-C4 with spondylolisthesis. The genetics consultant suspected Larsen syndrome. At 5 months, the molecular genetic testing of the FLNB gene failed to confirm the diagnosis. Follow-up echocardiograms showed closure of the ASD and dilation of the aortic root was noted with a diameter of 1.9 cm. At this point, MFS was considered as a possible diagnosis. However, ectopia lentis was absent and molecular genetic test of FBN1 failed to show a pathogenic variant. Ophthalmoscopic examination disclosed bilateral macular dragging and lens opacity in the right eye.
Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report
Published in Fetal and Pediatric Pathology, 2022
Yi Ariel Liu, Chieko Chijiwa, Christopher P. Dunham, Douglas H. Jamieson, Alfonso Solimano, Julianne van Schalkwyk, Millan S. Patel, Anna F. Lee
In neonates, the findings in arthrochalasia type EDS overlap with those of Larsen syndrome, pseudodiastrophic dysplasia, Desbuquois dysplasia, cutis laxa and other multiple joint dislocation or arthrogryposis syndromes, neuromuscular disorders, and skeletal dysplasias. An EDS-osteogenesis imperfecta (OI) overlap syndrome should also be considered when fractures occur [16]. The differential diagnosis of pathologic birth fractures includes iatrogenic, OI and other skeletal dysplasias/collagen disorders, congenital rickets, bone tumors or cysts, and osteothromboembolic events [17]. The infant described in this report had wrinkled skin and bony abnormalities, raising the possibility of Patterson syndrome, which was ruled out by genetic testing.