Acrocallosal syndrome.
نویسندگان
چکیده
Presented here is a case of a 8 year old boy with typical clinical manifestations of Acrocallosal syndrome. The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. The clinical and major nosologic aspects of this condition are discussed.
منابع مشابه
How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.
A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic.
متن کاملThe acrocallosal syndrome and Greig syndrome are not allelic disorders.
Acrocallosal syndrome is an autosomal recessive form of polysyndactyly associated with mental retardation and agenesis of the corpus callosum. There have been suggestions that it is allelic to the Greig cephalopolysyndactyly syndrome. Linkage analysis, using flanking markers, shows this suggestion is unlikely to be correct.
متن کاملThe acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.
First cousins, related through their mothers, showed a pattern of craniofacial, brain, and limb anomalies consistent with the acrocallosal syndrome. Both patients had a defect of the corpus callosum, macrocephaly with a protruding forehead and occiput, hypertelorism, non-horizontal palpebral fissures, a small nose, notched ear lobes, and postaxial polydactyly of the hands. The boy, in addition,...
متن کاملThe acrocallosal syndrome in a Turkish boy.
A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported...
متن کاملThe Acrocallosal Syndrome in A Neonate With Further Widening of Phenotypic Expression
The presentation of the typical characteristics of the acrocallosal syndrome (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate. An Indian neonate presented on day 1 of life (youngest in the literature to be reported) with combination of abnorma...
متن کاملDe novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
Acrocallosal syndrome (ACS) is characterised by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay. The condition overlaps with Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominant disorder that results from mutations in the GLI3 gene. Here we report a child with agenesis of the corpus callosum and s...
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ورودعنوان ژورنال:
- Journal of the Indian Society of Pedodontics and Preventive Dentistry
دوره 24 1 شماره
صفحات -
تاریخ انتشار 2006