title: Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?
abstract: 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.
authors.affiliation: Department of Pediatrics of the Children's Hospital of Tunis, Tunis, Tunisia. faten.tinsa@hotmail.fr
authors.forename: Faten
authors.initials: F
authors.lastname: Tinsa
authors.forename: Khaoula
authors.initials: K
authors.lastname: Aissa
authors.forename: Mounira
authors.initials: M
authors.lastname: Meddeb
authors.forename: Dorra
authors.initials: D
authors.lastname: Bousnina
authors.forename: Khadija
authors.initials: K
authors.lastname: Boussetta
authors.forename: Souad
authors.initials: S
authors.lastname: Bousnina
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology; D002648:Child; D019465:Craniofacial Abnormalities / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D012867:Skin / Q000473:pathology; D012868:Skin Abnormalities / Q000473:pathology; D013577:Syndrome