Short Arm Deletion of Chromosome 18 in Cebocephaly

Abstract

55455 (Dr. Gorlin). in cebocephaly. The finding of a second genograms of the facial skeleton did not demon¬ strate a nasal vestibule and therefore, surgery Downloaded From: http://archpedi.jamanetwork.com/ by a Oakland University User on 06/04/2015

Autosomal deletion syndrome 46,XX,18p-: a new case report with absence of IgA in serum.

“…This identified the abnormal chromosome as late replicating, consistent with the expected patterns for chromosome 18 (Faint and Lewis, 1964;Uchida et al, 1965;Nitowsky et al, 1966;Gorlin et al, 1968;McDermott et al, 1968). Of the 23 viable cases, 22 had mild signs of craniofacial dysplasia, and in one, severe bilateral clefts of the lips and palate were present (Pfeiffer, 1966).…”

“…Her two transmitted cases were the progeny of different fathers, one mildly affected child and one infant with cebocephaly being produced. Gorlin et al (1968) supported her hypothesis, and proposed a homozygous recessive condition to explain those cases of arrhinencephaly with normal karyotype. Another mechanism would however be required to explain the association of arrhinencephaly with trisomy D. Such a mechanism could be the presence of genes on the short arm of chromosome 18 controlling loci on chromosome 13.…”

Genetic Heterogeneity of Cebocephaly

“…All of the reported infants with cebocephaly (McKusick, 1961;Buhler et al, 1962;DeMyer, 1964;Uchida et al, 1965;Conen et al, 1966;Gorlin et al, 1968;Lejeune et al, 1969;James and van Leeuwen, 1970;Warkany, 1971;Neu et al, 1972;Warkany, 1972), as well as our three patients, have had holotelencephaly and the associated cerebral abnormalities often found in individuals with holotelencephaly (Yakovlev, 1959). In addition, infants with cebocephaly often have absence, and abnormal development, of the pituitary; endocrine gland; hypoplasia, genital underdevelopment that is most noticeable in males, and a cleft or highly arched palate (Table I).…”

Further studies on the genetic heterogeneity of cebocephaly.

“…Data on the histological structure of the cerebellum in cases resulting from the loss of the short arm of chromosome 18 are virtually absent, and the changes presented in the case by Gorlin et al (1968) are not specific. Therefore, it is not possible to judge whether or not there are morphological distinctions between 'isolated' cebocephaly and those resulting from 18p-.…”