Bent bone dysplasias (Q46624): Difference between revisions
From determinar.ia.br - Determine suas informações
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Quaisquer síndromes são caracterizadas por mineralização deficiente do crânio, craniossinostose, púbis e clavículas hipoplásicos, osteopenia, ossos longos curvados, orelhas de implantação baixa, hipertelorismo, hipoplasia da face média, dentes fetais erupcionados prematuramente e micrognatia. Essas síndromes podem estar associadas à mutação do gene FGFR2. | |||
| description / en | description / en | ||
Any syndromes are characterised by poor mineralization of the skull, craniosynostosis, hypoplastic pubis and clavicles, osteopenia, bent long bones, low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. These syndromes may be associated with mutation of the FGFR2 gene. | |||
Revision as of 15:20, 13 August 2026
Any syndromes are characterised by poor mineralization of the skull, craniosynostosis, hypoplastic pubis and clavicles, osteopenia, bent long bones, low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. These syndromes may be associated with mutation of the FGFR2 gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.C |
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| English | Bent bone dysplasias |
Any syndromes are characterised by poor mineralization of the skull, craniosynostosis, hypoplastic pubis and clavicles, osteopenia, bent long bones, low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. These syndromes may be associated with mutation of the FGFR2 gene. |
