THE ACROCALLOSAL SYNDROME IN A NEONATE WITH FURTHER WIDENING OF PHENOTYPIC EXPRESSION; CASE REPORT

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SINGHAL RAVISH; PANDIT SADBHAVNA; SAINI ASHOK; SINGH PARAMJIT; DHAWAN NEERAJ

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Journal Paper

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Journal: Iranian Journal of Child Neurology Year:2014 | Volume:8 | Issue:2 Page(s): 60-64

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Title

THE ACROCALLOSAL SYNDROME IN A NEONATE WITH FURTHER WIDENING OF PHENOTYPIC EXPRESSION; CASE REPORT

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Keywords

ACROCALLOSAL SYNDROME (ACLS)

AGENESIS OF CORPUS CALLOSUM

POLYDACTYLY

Abstract

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 abnormalities consistent with the acrocallosal syndrome and some additional findings. The baby, born to non-consanguineous, healthy parents, presented with macrocephaly, prominent forehead, hypertelorism, POLYDACTYLY of the hands and feet, duplication of hallux, hypotonia, recurrent cyanotic episodes, rib anomalies, dextro-positioning of heart, and delayed fall of umbilical cord.As the mode of inheritance of ACLS is autosomal recessive, the risk of recurrence is 25%. Genetic counselling is of prime importance, POLYDACTYLY, and central nervous system malformations can be detected by ultrasonography in the second trimester, but due to variability of presentation, prenatal diagnosis may not always be possible.

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APA: Copy

SINGHAL, RAVISH, PANDIT, SADBHAVNA, SAINI, ASHOK, SINGH, PARAMJIT, & DHAWAN, NEERAJ. (2014). THE ACROCALLOSAL SYNDROME IN A NEONATE WITH FURTHER WIDENING OF PHENOTYPIC EXPRESSION; CASE REPORT. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 8(2), 60-64. SID. https://sid.ir/paper/303405/en

Vancouver: Copy

SINGHAL RAVISH, PANDIT SADBHAVNA, SAINI ASHOK, SINGH PARAMJIT, DHAWAN NEERAJ. THE ACROCALLOSAL SYNDROME IN A NEONATE WITH FURTHER WIDENING OF PHENOTYPIC EXPRESSION; CASE REPORT. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2014;8(2):60-64. Available from: https://sid.ir/paper/303405/en

IEEE: Copy

RAVISH SINGHAL, SADBHAVNA PANDIT, ASHOK SAINI, PARAMJIT SINGH, and NEERAJ DHAWAN, “THE ACROCALLOSAL SYNDROME IN A NEONATE WITH FURTHER WIDENING OF PHENOTYPIC EXPRESSION; CASE REPORT,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 8, no. 2, pp. 60–64, 2014, [Online]. Available: https://sid.ir/paper/303405/en

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