Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

European Journal of Pediatrics
Chayim Can Schell-ApacikHubertus von Voss

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, an...Continue Reading

References

Jul 1, 1991·European Journal of Pediatrics·H HammH Traupe
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Dec 1, 1982·American Journal of Medical Genetics·H H van Gelderen
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Jan 7, 2004·American Journal of Medical Genetics. Part a·Rudolf Happle
Jul 24, 2007·Indian Journal of Dermatology, Venereology and Leprology·S Amladi

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Citations

Dec 6, 2008·Acta Neuropathologica·Laurent PasquierAnnie Laquerrière
Mar 19, 2011·International Journal of Dermatology·Ivana BinićMilanka Ljubenović

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