No abstract available.
Humans ; Osteochondrodysplasias*

No abstract available.
Chondrodysplasia Punctata*

No abstract available.
Chondrodysplasia Punctata*

No abstract available.
Camurati-Engelmann Syndrome*

No abstract available.
Camurati-Engelmann Syndrome*

No abstract available.
Ellis-Van Creveld Syndrome*

No abstract available.
Chondrodysplasia Punctata* ; Korea*

OBJECTIVES: To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases. METHODS: A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021. RESULTS: Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child. CONCLUSIONS This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.
Achondroplasia/genetics* ; Child ; Humans ; Mutation ; Osteochondrodysplasias/genetics* ; Receptor, Fibroblast Growth Factor, Type 3/genetics* ; Retrospective Studies

Maffuci's syndrome is characterized by defects in cartilage bone formation (dyschondroplasia) with subcutaneous multiple vascular hemangiomas, and often with enchondromas. More than 120 cases of this syndrome, which was first described by Maffucci in 1881, has been reported. But intracranial tumors are rare complication of this syndrome. In this paper we describe the 6th case in the world report of Maffucci's syndrome complicated by an intracranial tumor, which was confirmed histologically as a chondroma, and review the literature with regard to this rare complication of Maffucci's syndrome.
Cartilage ; Chondroma* ; Hemangioma ; Osteochondrodysplasias ; Osteogenesis ; Sphenoid Bone

Tracheobronchopathia osteochondroplastica (TO) is a rare benign disease of trachea characterized by numerous osseocartilaginous nodules protruding into the tracheobronchial lumen. The etiology of TO is unknown; however, an association with upper respiratory diseases such as atrophic rhinitis has been suggested. The authors report a case of TO with atrophic rhinitis with related literatures.
Osteochondrodysplasias ; Rhinitis, Atrophic ; Trachea ; Tracheal Diseases