Abstract
Alopecia–contractures–dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.
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Acknowledgments
We sincerely thank the patient and his family for participation in this study. We are also grateful to M. Wetter for performing the chromosome and subtelomere analyses, R. Ullmann and the Max-Planck-Institute of Molecular Genetics, Berlin, for providing the BAC array for array-CGH analysis, Wellcome Trust Sanger Centre and BACPAC Resources Centre for providing the BAC clones, as well as K. Wagner, M. Bihler, and F. Trotier for their technical assistance. This work was supported by the Else Kroener-Fresenius Foundation.
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Schell-Apacik, C., Hardt, M., Ertl-Wagner, B. et al. Expanding the phenotype of alopecia–contractures–dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature. Eur J Pediatr 167, 1057–1062 (2008). https://doi.org/10.1007/s00431-007-0641-6
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DOI: https://doi.org/10.1007/s00431-007-0641-6