Multiple Congenital Anomalies/Mental Retardation Syndrome With Multiple Circumferential Skin Creases: A New Syndrome?
| Autor: | Khadija Boussetta, Mounira Meddeb, Souad Bousnina, D. Bousnina, Khaoula Aissa, Faten Tinsa |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Male
Microphthalmia Craniofacial Abnormalities Intellectual Disability medicine Humans Abnormalities Multiple Hypertelorism Craniofacial Child Skin medicine.diagnostic_test Brain Syndrome Anatomy medicine.disease Magnetic Resonance Imaging Ureterocele medicine.anatomical_structure Hypospadias Karyotyping Pediatrics Perinatology and Child Health Skin biopsy Skin Abnormalities Forehead Neurology (clinical) medicine.symptom Psychology Penis |
| Zdroj: | Journal of Child Neurology. 24:224-227 |
| ISSN: | 1708-8283 0883-0738 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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