Multiple Congenital Anomalies/Mental Retardation Syndrome With Multiple Circumferential Skin Creases: A New Syndrome?

Department of Pediatrics of the Children's Hospital of Tunis, Tunis, Tunisia.
Journal of child neurology (Impact Factor: 1.72). 03/2009; 24(2):224-7. DOI: 10.1177/0883073808322673
Source: PubMed


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.

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    • "The pathophysiology of these skin creases is not clear. It may result from a variety of underlying abnormalities including nevus lipomatosus, smooth muscle hamartoma, fragmented elastic fibers with smooth muscle hamartoma or the skin may be normal histopathologically [2–5]. "
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