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Picture of the Month

Picture of the Month Abstract Denouement and Discussion Cebocephaly Manifestations Clinical manifestations are orbital hypotelorism, nose with a single nostril, microcephaly, and holoprosencephaly. These children usually do not survive the first month of life and apparently have severe neurologic impairment. Other congenital anomalies may also be present. Cebocephaly is in the middle of a spectrum of median facial anomalies that are associated with holoprosencephaly; it is a result of abnormal development of the forebrain. The most severe facial defect in the spectrum is cyclopia, which involves a single median orbit and a proboscis above the orbit. Ethmocephaly refers to extreme hypotelorism with a proboscis that may be absent, single, or double. Premaxillary agenesis, at the other end of the spectrum, consists of ocular hypotelorism, a flattened nose, and a median cleft lip. Genetics This disorder usually occurs sporadically. Chromosomal abnormalities, particularly trisomy 13 and 18 syndromes, have been reported. Autosomal recessive inheritance has been postulated in two affected siblings with normal References 1. DeMyer W, Zerman W, Palmer C: The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly . Pediatrics 1964;34:256-263. 2. Gorlin RJ, Yunis J, Anderson VE: Short arm deletion of chromosome 18 in cebocephaly . Am J Dis Child 1968;115:473-476. 3. Van Leeuwen G, James E: Familial cebocephaly: Case description and survey of the anomaly . Clin Pediatr 1970;9:491-493.Crossref 4. Holmes LB, Driscoll S, Atkins L: Genetic heterogeneity of cebocephaly . J Med Genet 1974; 11:35-40.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Picture of the Month

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References (4)

Publisher
American Medical Association
Copyright
Copyright © 1981 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1981.02130330069022
Publisher site
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Abstract

Abstract Denouement and Discussion Cebocephaly Manifestations Clinical manifestations are orbital hypotelorism, nose with a single nostril, microcephaly, and holoprosencephaly. These children usually do not survive the first month of life and apparently have severe neurologic impairment. Other congenital anomalies may also be present. Cebocephaly is in the middle of a spectrum of median facial anomalies that are associated with holoprosencephaly; it is a result of abnormal development of the forebrain. The most severe facial defect in the spectrum is cyclopia, which involves a single median orbit and a proboscis above the orbit. Ethmocephaly refers to extreme hypotelorism with a proboscis that may be absent, single, or double. Premaxillary agenesis, at the other end of the spectrum, consists of ocular hypotelorism, a flattened nose, and a median cleft lip. Genetics This disorder usually occurs sporadically. Chromosomal abnormalities, particularly trisomy 13 and 18 syndromes, have been reported. Autosomal recessive inheritance has been postulated in two affected siblings with normal References 1. DeMyer W, Zerman W, Palmer C: The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly . Pediatrics 1964;34:256-263. 2. Gorlin RJ, Yunis J, Anderson VE: Short arm deletion of chromosome 18 in cebocephaly . Am J Dis Child 1968;115:473-476. 3. Van Leeuwen G, James E: Familial cebocephaly: Case description and survey of the anomaly . Clin Pediatr 1970;9:491-493.Crossref 4. Holmes LB, Driscoll S, Atkins L: Genetic heterogeneity of cebocephaly . J Med Genet 1974; 11:35-40.Crossref

Journal

American Journal of Diseases of Children – American Medical Association

Published: Sep 1, 1981

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