title: Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.
abstract: We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-Opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.
authors.affiliation: Department of Pediatrics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. muratcak@hotmail.com
authors.forename: Murat
authors.initials: M
authors.lastname: Cakir
authors.forename: Ilke
authors.initials: I
authors.lastname: Mungan
authors.forename: Melike
authors.initials: M
authors.lastname: Makuloglu
authors.forename: Aysenur
authors.initials: A
authors.lastname: Okten
mesh_terms: D000015:Abnormalities, Multiple; D002971:Cleft Lip; D002972:Cleft Palate; D019465:Craniofacial Abnormalities; D017809:Fatal Outcome; D006801:Humans; D006849:Hydrocephalus; D007231:Infant, Newborn; D008297:Male; D009421:Nervous System Malformations; D013577:Syndrome