title: Uncommon oral cleft in Wolf-Hirschhorn syndrome.
abstract: Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.
authors.affiliation: Department of Oral Diagnosis, Dental School, UNICAMP - University of Campinas, Piracicaba, SP, Brazil.
authors.forename: Sibele Nascimento de
authors.initials: SN
authors.lastname: Aquino
authors.affiliation: Department of Oral Diagnosis, Dental School, UNICAMP - University of Campinas, Piracicaba, SP, Brazil.
authors.forename: Renato A
authors.initials: RA
authors.lastname: Machado
authors.affiliation: Stomatology Clinic, Dental School, UNIMONTES - State University of Montes Claros, Montes Claros, MG, Brazil.
authors.forename: Lívia Maris R
authors.initials: LM
authors.lastname: Paranaíba
authors.affiliation: Department of Oral Diagnosis, Dental School, UNICAMP - University of Campinas, Piracicaba, SP, Brazil.
authors.forename: Ricardo D
authors.initials: RD
authors.lastname: Coletta
authors.affiliation: Special Genetics Service, Hospital of the Federal University of Minas Gerais, Belo Horizonte, MG, Brazil.
authors.forename: Marcos J Burle de
authors.initials: MJ
authors.lastname: Aguiar
authors.affiliation: Center for Rehabilitation of Craniofacial Anomalies and School of Medicine, José do Rosário Vellano University, Alfenas, MG, Brazil.
authors.forename: Cassandro
authors.initials: C
authors.lastname: Fernandes
authors.affiliation: Stomatology Clinic, Dental School, UNIMONTES - State University of Montes Claros, Montes Claros, MG, Brazil.
authors.forename: Hercílio
authors.initials: H
authors.lastname: Martelli Júnior
mesh_terms: D002972:Cleft Palate / Q000601:surgery*; D005260:Female; D006801:Humans; D007223:Infant; D010375:Pedigree; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis* / Q000235:genetics