Unilateral cleft lip in a boy with Angelman syndrome

O Rösby; P Strömme; M Sandsmark; K Ramstad; E Ormerod; C Birger van der Hagen; T Kubota; D H Ledbetter; K H Orstavik

Unilateral cleft lip in a boy with Angelman syndrome

J Craniofac Genet Dev Biol. 1996 Apr-Jun;16(2):122-5.

Authors

O Rösby¹, P Strömme, M Sandsmark, K Ramstad, E Ormerod, C Birger van der Hagen, T Kubota, D H Ledbetter, K H Orstavik

Affiliation

¹ Department of Medical Genetics, Ullevål University Hospital, University of Oslo, Norway.

PMID: 8773903

Abstract

We report on a mentally retarded boy with epileptic seizures, microcephaly, ataxia, and developmental delay. His clinical features were consistent with Angelman syndrome. Fluorescent in situ hybridization and DNA analysis showed a deletion of chromosome 15 q11-13 and thus confirmed the diagnosis. In addition, the patient had a unilateral, incomplete cleft lip, a feature which has not previously been reported in Angelman syndrome.

Publication types

Case Reports

MeSH terms

Angelman Syndrome / complications
Angelman Syndrome / genetics*
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 15*
Cleft Lip / etiology
Cleft Lip / genetics*
Epilepsy / complications
Epilepsy / drug therapy
Face / abnormalities
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Intellectual Disability / complications
Intellectual Disability / genetics
Male
Microcephaly / genetics
Polymorphism, Genetic
Pregnancy