Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.
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.
Cakir
Murat
M
Department of Pediatrics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. muratcak@hotmail.com
Mungan
Ilke
I
Makuloglu
Melike
M
Okten
Aysenur
A
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