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3105497 
Journal Article 
Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome? 
Tinsa, F; Aissa, K; Meddeb, M; Bousnina, D; Boussetta, K; Bousnina, S 
2009 
Yes 
Journal of Child Neurology
ISSN: 0883-0738
EISSN: 1708-8283 
24 
2 
224-227 
English 
19182162 
We describe a combination of multiple congenital anomalies, a severe psychomotor retardation and seizures in a 9-year-old Tunisian boy with circumferential ringed skin creases. He had symmetrical circumferential skin creases on arms, legs, and penis. Craniofacial anomalies included: an elongated face, tight forehead, hypertelorism, bilateral epicanthic folds, upslanting palpebral fissures, microphthalmia, convergent strabismus, wide nasal bridge, aberrant teeth, dental caries, and low-set posteriorly rotated ears with overfolded thick helices. He had also ureterocele, hypospadias, and others anomalies. The magnetic resonance imaging of the brain showed hypoplastic vermis, hypoplastic corpus callosum, and dilatation of ventricles. Chromosomal analysis revealed a normal male karyotype with 46,XY. Skin biopsy was normal. To the best of our knowledge, this combination of anomalies has not been reported and this case may be a unique syndrome.