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Pearson syndrome
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Similarities and differences between this syndrome and Schwachman syndrome, in which exocrine pancreatic insufficiency is associated with hematologic disease, have been considered [1, 14]. In Schwachman syndrome, the marrow abnormality leads to leukopenia, and the histology is of pancreatic fatty replacement. There is also bony metaphyseal dysplasia. In Pearson syndrome, vacuolation of marrow cells is distinctive; there has also been autopsy evidence of splenic atrophy [1]. In a patient with severe pancytopenia early in life, fibrosis of the thyroid was found at autopsy [17].
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Other syndromes caused by mutations in RMRP: Metaphyseal dysplasia without hypotrichosis (MDWH, CHH variant): skeletal features are almost identical to CHH, but there is no hypotrichosis or immunodefficiency. Anauxetic dysplasia: severe form of spondylometaepiphyseal dysplasia, extreme short stature, marked hyperlaxity, and may have intellectual impairment. Both these disorders are autosomal recessive.
Congenital and Developmental Abnormalities
Published in Harry Griffiths, Musculoskeletal Radiology, 2008
Usually people with metaphyseal dysplasia have normal height with a normal life expectancy, but they do have knock-knees (genu valgum). Metaphyseal dysplasia is actually a failure of tubulation, that is, a failure of periosteal resorption. Radiographically, there is metaphyseal flaring, and in the distal femurs, there is an Erlenmeyer flask deformity (Fig. 22). They also have widened ribs. This condition is of no clinical importance other than to include it in the differential diagnosis of Erlenmeyer flask deformity.
Hematopoietic stem cell transplantation for classical inherited bone marrow failure syndromes: an update
Published in Expert Review of Hematology, 2021
Filomena Pierri, Maura Faraci, Stefano Giardino, Carlo Dufour
SDS, a disorder due to mutations of the SDSB gene, is the most common form of neutropenia associated with extrahematologic features (exocrine pancreatic insufficiency, metaphyseal dysplasia, mental retardation, cardiomyopathy, and immune dysfunction) [82]. Pathogenic mutations generate defective SBDS protein, causing abnormal ribosomal assembly and inadequate maintenance of the stromal microenvironment [83]. Ten to 60% of patients may present hematological complications, such as severe BMF or MDS/AML. The risk of clonal evolution increases with age, varying from 5% in childhood to nearly 24% in adulthood [84].