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Terminal Osseous Dysplasia With Pigmentary Defects (TODPD): Follow-Up of the First Reported Family, Characterization of the Radiological Phenotype, and Refinement of the Linkage Region
- Publication Year :
- 2010
-
Abstract
- Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies and pigmentary skin defects. We have previously described this syndrome in several females from a large, four-generation pedigree. The presentation in the affected patients included multiple anomalies, hypertelorism, iris colobomas, punched-out pigmentary abnormalities over the face and scalp, brachydactyly, and digital fibromatosis. The phenotype was highly variable thus suggesting that X-inactivation plays an important role in the expression of the disease. Following our initial description of this condition there have been reports of more cases supporting the initial phenotypic description of this disease. We report on the follow-up of this family at about 10 years from the first evaluation. A detailed clinical follow-up and a review of the skeletal surveys suggests that although the most striking features involves the hands and feet, the skeletal involvement is more generalized and affects many other areas. Our previous linkage analysis has demonstrated mapping to Xq27.3-Xq28. Using a 6,056 SNP array, we have further refined the critical region within the Xq28 region. We have also excluded two candidate genes (FLNA and FAM58A) mapping in the critical region. The identification of the gene responsible for this rare condition will shed light on the molecular pathways leading to the various congenital anomalies of TODPD and will allow a more accurate genetic counseling to the affected individuals.
- Subjects :
- Pathology
medicine.medical_specialty
Candidate gene
Foot Deformities, Congenital
Genetic Linkage
Genetic counseling
Biology
Article
Genetics
medicine
FLNA
Humans
Family
Hypertelorism
Child
Genetics (clinical)
Bone Diseases, Developmental
Brachydactyly
Infant
medicine.disease
Terminal osseous dysplasia with pigmentary defects
Radiography
Phenotype
Dysplasia
Female
medicine.symptom
Hand Deformities, Congenital
Pigmentation Disorders
SNP array
Follow-Up Studies
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....8e6022148096921481fb97d3a2965f0d