title: XK-aprosencephaly and related entities.
abstract: We offer further biological characterization of the XK atelen/aprosencephaly syndrome in two infants, one with prolonged survival, the other presenting prenatally with apparent hydranencephaly and an orbital tumor (OS). Familial occurrence in the former born to presumably nonconsanguineous Lybian parents may represent parental germinal mosaicism or autosomal recessive inheritance. Both had apparently normal chromosomes; however, the Lybian infant had slightly increased induced chromosome breakage suggesting that this rare multiple congenital anomalies syndrome may involve a DNA repair defect. Virtual absence of atelen/aprosencephalic structures may lead to an arthrogryposis-like prenatal movement disorder. The orbital tumor in the Utah infant consisted of dystopic neural tissue compressing a rudimentary globe and was connected by a thin bridge of neural tissue to the small mass of disorganized brain tissue usually found in atelen/aprosencephalic infants and fetuses. No evidence of an encephaloclastic process was found in the autopsied Utah infant.
authors.affiliation: Department of Pediatrics, University of L'Aquila, L'Aquila, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Renzetti
authors.forename: A
authors.initials: A
authors.lastname: Villani
authors.forename: C
authors.initials: C
authors.lastname: Bizzarri
authors.forename: L
authors.initials: L
authors.lastname: Chessa
authors.forename: E
authors.initials: E
authors.lastname: Vignati
authors.forename: A
authors.initials: A
authors.lastname: Gianotti
authors.forename: M
authors.initials: M
authors.lastname: Cappa
authors.forename: Juliana
authors.initials: J
authors.lastname: Szakacs
authors.forename: Jeanette J
authors.initials: JJ
authors.lastname: Townsend
authors.forename: Mark E
authors.initials: ME
authors.lastname: Miller
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
authors.forename: Anne M
authors.initials: AM
authors.lastname: Kennedy
authors.forename: Janice L
authors.initials: JL
authors.lastname: Byrne
mesh_terms: D000015:Abnormalities, Multiple; D000757:Anencephaly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011859:Radiography; D016019:Survival Analysis