Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease
| Autor: | Pelin Ozyavuz Cubuk, Mehmet Bugrahan Duz |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Mutation Missense Disease Short stature Finger Phalanges Genetics medicine Humans Hedgehog Proteins Femur Toe Phalanges Growth Disorders Genetics (clinical) Bone Diseases Developmental Adult patients Femur Neck business.industry Brachydactyly Acrocapitofemoral dysplasia General Medicine Phalanx medicine.disease Pedigree Short femoral neck Dysplasia Disease Progression Female medicine.symptom business Epiphyses |
| Zdroj: | European Journal of Medical Genetics. 64:104343 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2021.104343 |
| Popis: | Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive skeletal dysplasia characterized by short stature with short limb dwarfism, brachydactyly, and a narrow thorax. Major radiographic features are egg-shaped capital femoral epiphyses with a short femoral neck and cone-shaped epiphyses, mainly in the hands and hips. To date, only four child patients from two families have been reported. We describe two adult patients with ACFD with a novel homozygous c.478C>T (p.Arg160Cys) mutation in IHH in the third family of the literature. The reported cases showed a middle phalanges which fused with distal phalanges in the fifth toes, the typical configuration of metacarpals, radial angulation and extremely short femoral neck. These findings could help the diagnosis of ACFD in adult patients. We hope that this new family will be a helpful guide for predicting and managing the prognosis of diagnosed children. |
| Databáze: | OpenAIRE |
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