Cerebro-oculo-facio-skeletal syndrome
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2012; 22 (9): 607-609
Dans Anglais
| IMEMR
| ID: emr-153044
ABSTRACT
Cerebro-oculo-facio-skeletal syndrome [COFSS] is a recessively inherited neurodegenerative disorder. We describe an 8 months old Saudi girl, a product of consanguineous parents with unremarkable pre-natal and postnatal history and birth weight 2 kg. She was having microcephaly, micrognathia, micro-ophthalmia, large low set ears, upper lip overhanging the lower lip and congenital contractures. Growth and development were severely retarded. MRI and MRS [magnetic resonance spectrometry] of brain displayed severe brain atrophy and hypo/demyelination of white matter. The relationship between COFSS and differential diagnoses, Cockayne syndrome [CS], Pena-Shokier phenotype [PSP] and Neu-Lexova syndrome [NLS] are discussed. Pre-natal diagnosis followed by appropriate management in time may be helpful to reduce its incidence in the community
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Indice:
Méditerranée orientale
langue:
Anglais
Texte intégral:
J. Coll. Physicians Surg. Pak.
Année:
2012
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