title: Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis.
abstract: Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and micrognathia. Additional abnormalities were described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. We present the magnetic resonance imaging findings of a neonate with Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Major brain malformations may be associated with Seckel syndrome. Imaging studies should be performed to determine any central nervous system abnormalities. Considering the basic defect of neuroblast proliferation in Seckel syndrome, neuronal migration disorders should be sought in these patients.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. drdilekcoban@yahoo.com.tr
authors.forename: Dilek
authors.initials: D
authors.lastname: Sarici
authors.forename: Mustafa Ali
authors.initials: MA
authors.lastname: Akin
authors.forename: Ahu
authors.initials: A
authors.lastname: Kara
authors.forename: Selim
authors.initials: S
authors.lastname: Doganay
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoglu
mesh_terms: D000015:Abnormalities, Multiple; D001176:Arthrogryposis / Q000150:complications*; D004392:Dwarfism / Q000150:complications*; D005145:Face / Q000002:abnormalities; D019066:Facies; D005260:Female; D016142:Holoprosencephaly / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000150:complications*