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Familial mandibuloacral dysplasia
The British Journal of Dermatology
|December 1, 1981
Summary
Mandibuloacral dysplasia, a rare genetic disorder, was identified in two sisters and their fifth-cousins. The study highlights key features and potential partial forms of this skeletal dysplasia.
Area of Science:
- Genetics
- Skeletal Dysplasias
- Dermatology
Background:
- Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by specific skeletal and integumentary features.
- Previous research has documented various clinical manifestations of MAD, but familial cases with detailed descriptions are less common.
Observation:
- A family presented with two affected sisters and two affected fifth-cousins, all female.
- Clinical observations included mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, and characteristic changes in hands and feet (acroosteolysis, abbreviated phalanges, skin atrophy).
- Additional family-specific findings were alopecia and loss of lower teeth.
Findings:
- The described family cases confirm the genetic inheritance pattern of mandibuloacral dysplasia.
- The study emphasizes the significance of cutaneous alterations in diagnosing MAD.
- The presence of partial forms of the disease is suggested, as exemplified by one of the affected individuals.
Implications:
- This report expands the understanding of mandibuloacral dysplasia's clinical spectrum and inheritance.
- Recognizing cutaneous manifestations is crucial for early diagnosis, especially in suspected partial forms.
- Further research into the genetic basis and phenotypic variability of MAD is warranted.