Metacarpals, metatarsals, and phalanges were studied to assess the developmental morphology of "secondary" ossification in the "nonepiphyseal" ends of these bones as well as the formation of the pseudoepiphysis as an epiphyseal ossification variant. Both direct ossification extension from the metaphysis into the epiphysis and pseudoepiphysis formation preceded, and continued to be more mature than, formation and expansion of the "classic" epiphyseal (secondary) ossification center at the opposite end of each specific bone. Direct metaphyseal to epiphyseal ossification usually started centrally and expanded hemispherically, replacing both physeal and epiphyseal cartilage simultaneously. In contrast, when remnants of "physis" were retained, while juxtaposed epiphyseal cartilage was replaced, a pseudoepiphysis formed. There were three basic patterns of pseudoepiphysis formation. First, a central osseous bridge extended from the metaphysis across the "physis" into the epiphysis and subsequently expanded to create a mushroom-like osseous structure. In the second pattern a peripheral osseous bridge formed, creating either an osseous ring or an eccentric bridge between the metaphysis and the epiphysis. In the third pattern, multiple bridging occurred. In each situation the associated remnant "physis" lacked typical cell columns and was incapable of significantly contributing to the postnatal longitudinal growth of the involved bone. Pseudoepiphyses were well formed by 4-5 years and coalesced with the rest of the bone months of years before skeletal maturation was attained at the opposite epiphyseal end, which ossified in the typical pattern (i.e., formation of a secondary center de novo completely within the cartilaginous epiphysis). This process may also affect the development and appearance of ossification within the longitudinal epiphyseal bracket ("delta phalanx").
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Indian J Pediatr
October 2021
Department of Radiology, Base Hospital, Sammanthurai, Sri Lanka.
Am J Med Genet A
January 2021
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature and distinctive skeletal features caused by heterozygous NPR2 pathogenic variants. Only four families have been reported. We present a family with five affected individuals (mother, three sons, and daughter).
View Article and Find Full Text PDFMol Syndromol
July 2015
Division of Genetics and Metabolism, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.
We report an unusual combination of features comprising delayed tooth eruption and closure of the anterior fontanel as the sole presenting features in a child with cleidocranial dysplasia (CCD). Radiological survey revealed the presence of wormian bones in the skull, pseudoepiphysis at the base of the bilateral second metacarpal, and midline ossification defects at pubic symphysis in the presence of essentially normal clavicles. DNA sequencing of the RUNX2 gene detected a novel nonsense mutation in exon1 (c.
View Article and Find Full Text PDFSkeletal Radiol
August 2005
Department of Radiology, Afyon Kocatepe University School of Medicine, 03200, Afyon, Turkey.
Objective: To compare the radiological findings of heterozygous and homozygous subjects with synpolydactyly (SPD) and to discuss their unusual bone formations.
Design And Patients: Families with hand and foot SPD were examined. Genetic analysis was performed with blood samples and the pedigree was constructed.
Acta Orthop Belg
August 2003
Departments of Orthopaedic Surgery, G. Gennimatas Hospital and Radiology, G. Papageorgiou Hospital, Thessaloniki, Greece.
Three cases in which congenital carpal fusion was associated with formation deficiencies of the hand are presented. In two patients with a lunate-triquetral and a capitate-hamate-trapezoid coalition, respectively, an ulnar deficient hand was also diagnosed. A subdivision of the first type of ulnar club hand deformities is proposed.
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