MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY

Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability. It was first described by Albert Schinzel as earl...

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Published inGenetic counseling Vol. 26; no. 2; pp. 171 - 179
Main Authors Krajewska-Walasek, M, Kugaudo, M, Jędrzejowska, M, Cieślikowska, A, Ichkou, A, Attié-Bitach, T, Jezela-Stanek, A
Format Journal Article
LanguageEnglish
Published Switzerland Éditions Médecine et Hygiène 01.01.2015
Subjects
Acrocallosal Syndrome - genetics
Child, Preschool
Female
Humans
Infant
Kinesin - genetics
Male
Poland
Siblings
Tooth Abnormalities - genetics
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Summary:Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability. It was first described by Albert Schinzel as early as in 1979, but the diagnosis of this syndrome still remains challenging. Here we report a family with 2 sibs with acrocallosal syndrome caused by novel mutations in KIF7. They present with features like molar tooth sign and hyperventilation that are not very typical in ACLS, but do occur in other ciliopathies, hence we also discuss the clinical heterogeneity of KIF7-associated disorders.
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ISSN:1015-8146