Nota Clínica

Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with ‘adhesive’ behavioral phenotype

H. Bibas-Bonet, M. Fontenla, R. Fauze, I. G. De Pinat [REV NEUROL 2001;32:746-750] PMID: 11391511 DOI: https://doi.org/10.33588/rn.3208.2000303

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Volumen 32 | Number 08 | Nº of views of the article 18.475 | Nº of PDF downloads 467 | Article publication date 01/05/2001

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ABSTRACT

INTRODUCTION Since the first description of ring chromosome 8 [r(8)] in 1973, only a few patients have been reported. In this report we present a child with this anomaly, and we compare his clinical manifestations with previously reported patients. CLINICAL CASE.A 12yearold boy presented with low birth weight, mental retardation, microcephaly, short stature, hypotonia, and minor facial anomalies: hypotelorism, bilateral epicanthic folds, long philtrum, thin lips, narrow palate, micrognathia and lowset ears. Digital anomalies were bilateral brachyclinodactily of the fifth finger, and cutaneous syndactyly between second and third fingers. The boy had a pleasant personality but exhibit attachment for people and things with unrestricted affect. Cytogenetic analysis on peripheral white blood cells showed a r(8) chromosome. Parental karyotypes were both normal.

CONCLUSIONSThe major features in the boy studied by us were found also in the other cases reported with an r(8) chromosome, but all they were nonspecific features, and do not support the existence of a readily recognizable ‘r(8) chromosome syndrome’. Followup data with special emphasis on the behavioral characteristics are needed for defining an specific behavioral phenotype. KeywordsBehavioral phenotype Facial anomalies Mental retardation Ring chromosome 8

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Nota Clínica

Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with ‘adhesive’ behavioral phenotype