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Updated: Jan 5, 2026

Development and Evaluation of a Rat Model of Full-Thickness Cartilage Defects
Published on: May 19, 2023
[Cartilage-hair hypoplasia. A case report]
Tamara Aidé Staines-Boones1, María Guadalupe González-Villarreal, Cecilia Hernández-Fernández
1Instituto Mexicano del Seguro Social, Hospital de Especialidades, Servicio de Alergia e Inmunología, Monterrey, Nuevo León, México. ceciliahernandezfdez@gmail.com.
Background:
Cartilage-hair hypoplasia is a rare autosomal recessive disease, which is characterized by metaphyseal chondrodysplasia and thin hair. It can be accompanied by immunological disorders in varying degrees.
Clinical Case:
The case of a 35-month-old girl is described. Since her birth, with growth restriction, she has developed pneumonia eleven times, malabsorption syndrome and aganglionic megacolon, which is why she was diagnosed with cartilage-hair hypoplasia, with expression of non-severe combined immunodeficiency. The decision was to proceed with hematopoietic stem cell transplantation. At the time of this report, the patient was free from infectious processes.
Conclusion:
Cartilage-hair hypoplasia is a condition with diverse clinical features and different degrees of immunodeficiency. As part of the treatment, it is possible to perform haematopoietic stem cell transplantation.
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