{
  "abstract": "Cartilage–hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia. It is often associated with short stature, metaphyseal abnormalities, hair hypoplasia and immune dysfunction. This case describes a pregnant woman in her mid-30s with two previous children diagnosed with CHH with molecular confirmation of two pathogenic variants of the ribonuclease mitochondrial RNA processing gene. The couple is healthy and non-consanguineous. Routine ultrasound examination of the current pregnancy suggested this fetus was also likely to be affected. The couple opted not to perform invasive prenatal diagnosis. Umbilical cord blood was collected at birth for genetic testing, confirming the diagnosis. CHH has a significant impact on the quality of life of those affected. Genetic counselling may help parents understand the disease and its prognosis. Obstetric ultrasound plays an important role in the diagnosis by allowing early detection of suspected cases as well as assessing fetal growth.",
  "authors": [
    {
      "affiliations": [
        "Medicine, Unidade Local de Saúde de Santo António EPE, Porto, Portugal",
        "University of Porto Institute of Biomedical Sciences Abel Salazar, Porto, Portugal"
      ],
      "name": "Catarina Portela Carvalho"
    },
    {
      "affiliations": [
        "University of Porto Institute of Biomedical Sciences Abel Salazar, Porto, Portugal",
        "Department of Women and Reproductive Medicine, Centro Hospitalar do Porto, Porto, Portugal"
      ],
      "name": "Andreia Martins"
    },
    {
      "affiliations": [
        "ANDO Portugal - National Association for Skeletal Dysplasias, Évora, Portugal",
        "University of Évora School of Health and Human Development, Evora, Portugal"
      ],
      "name": "Inês Alves"
    },
    {
      "affiliations": [
        "Department of Obstetrics, University of Porto Institute of Biomedical Sciences Abel Salazar, Porto, Portugal",
        "Department of Women and Reproductive Medicine, Centro Hospitalar do Porto, Porto, Portugal"
      ],
      "name": "Luís Guedes-Martins"
    }
  ],
  "title": "Familial cartilage–hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants",
  "uid": "883aab27-df99-5c3e-83f5-bb725b0b3b5b"
}