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An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.
Genet Couns. 2008; 19(2):237-40.GC

Abstract

Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.

Authors+Show Affiliations

Ege University, Faculty of Medicine, Department of Pediatrics, Subdivision of Genetics and Teratology, Izmir, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18618999

Citation

Aykut, A, et al. "An Additional Manifestation in Acrocallosal Syndrome: Temporal Lobe Hypoplasia." Genetic Counseling (Geneva, Switzerland), vol. 19, no. 2, 2008, pp. 237-40.
Aykut A, Cogulu O, Ekmekci AY, et al. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. Genet Couns. 2008;19(2):237-40.
Aykut, A., Cogulu, O., Ekmekci, A. Y., & Ozkinay, F. (2008). An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. Genetic Counseling (Geneva, Switzerland), 19(2), 237-40.
Aykut A, et al. An Additional Manifestation in Acrocallosal Syndrome: Temporal Lobe Hypoplasia. Genet Couns. 2008;19(2):237-40. PubMed PMID: 18618999.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia. AU - Aykut,A, AU - Cogulu,O, AU - Ekmekci,A Y, AU - Ozkinay,F, PY - 2008/7/16/pubmed PY - 2008/9/10/medline PY - 2008/7/16/entrez SP - 237 EP - 40 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 19 IS - 2 N2 - Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/18618999/An_additional_manifestation_in_acrocallosal_syndrome:_temporal_lobe_hypoplasia_ L2 - https://www.malacards.org/card/corpus_callosum_agenesis_of DB - PRIME DP - Unbound Medicine ER -