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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, faten.tinsa{at}hotmail.fr

Khaoula Aissa, MD

Department of Pediatrics of the Children's Hospital of Tunis, Tunis, Tunisia

Mounira Meddeb, MD

Laboratory of Genetics, Tunis, Tunisia

Dorra Bousnina, MD

Department of Pediatrics of the Children's Hospital of Tunis, Tunis, Tunisia

Khadija Boussetta, MD

Department of Pediatrics of the Children's Hospital of Tunis, Tunis, Tunisia

Souad Bousnina, MD

Department of Pediatrics of the Children's Hospital of Tunis, Tunis, Tunisia

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.

Key Words: circumferential ringed skin creases • multiple congenital anomalies • mental retardation

Journal of Child Neurology, Vol. 24, No. 2, 224-227 (2009)
DOI: 10.1177/0883073808322673


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