Anatomical analysis of the developmental effects of aneuploidy in man--the 18-trisomy syndrome: I. Anomalies of the head and neck

American Journal of Medical Genetics
E T Bersu, J L Ramirez-Castro

Abstract

This paper describes the anatomical variations observed in the head and neck in eight infants with the 18-trisomy syndrome that were dissected and studied in detail. Of the usual muscles of facial expression, occipitofrontalis and the auricular and nasal muscles were hypolastic in all eight bodies and each subject showed extensive fusion of the muscles around the corner of the mouth. In each body there was a supernumerary muscle band that extended from the region near the corner of the mouth to the occipital attachment of trapezius. The otomandibular region in each body showed a variable spectrum of muscular, skeletal, arterial, and salivary gland variations bilaterally. Three of the bodies had infrahyoid muscle variations. The sum of these observations provides a more complete delineation of the variations that occur in the 18-trisomy syndrome. Tentative pathogenetic hypotheses for several of the defects are discussed, based on observations from human descriptive embryology. Poswillo's teratological model [1973] implicating hemorrhaging as a causal mechanism in human first and second branchial arch malformations is suggested as a possible mechanism to explain the bilateral otomandibular defects.

References

Jan 1, 1976·Annals of Human Genetics·C Smith
Jul 1, 1975·Archives of Otolaryngology·A W MigletsD J Lim
Mar 1, 1973·Oral Surgery, Oral Medicine, and Oral Pathology·D Poswillo
Feb 1, 1972·Journal of the Neurological Sciences·P S Michaelson, F H Gilles
Nov 1, 1965·Plastic and Reconstructive Surgery·W C Grabb
Jun 1, 1970·Archives of Otolaryngology·I SandoW G Hemenway
Jan 1, 1970·Brain : a Journal of Neurology·S M Sumi
Apr 1, 1966·Developmental Medicine and Child Neurology·R M Norman
Jan 1, 1959·Journal of Neuropathology and Experimental Neurology·P I YAKOVLEV
Apr 9, 1960·Lancet·J H EDWARDSO H WOLFF
Jul 1, 1964·The Journal of Pediatrics·A J LEWIS

❮ Previous
Next ❯

Citations

Aug 1, 1991·The Journal of Hand Surgery : Journal of the British Society for Surgery of the Hand·R J SpinnerM Spinner
Jan 23, 2009·Anatomical Science International·Vijaya Paul Samuel, Venkata Ramana Vollala
Sep 30, 2016·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Koichi WatanabeKoh-Ichi Yamaki
Aug 8, 2012·The American Journal of Sports Medicine·Lauren H RedlerChristopher S Ahmad
Jan 1, 1979·American Journal of Medical Genetics·J C Pettersen
Jan 1, 1980·American Journal of Medical Genetics·H HoehnG M Martin
Jun 1, 1984·American Journal of Medical Genetics·D W MoenE T Bersu
Feb 15, 1992·American Journal of Medical Genetics·R R Cousley, D J Wilson
Jan 1, 1979·American Journal of Medical Genetics·S W HerringS Pruzansky
Nov 11, 1996·American Journal of Medical Genetics·I KjaerB F Hansen
Jan 1, 1978·American Journal of Medical Genetics·S C Colacino, J C Pettersen
Jun 1, 1986·American Journal of Medical Genetics·M CampanaG Neri
Jan 1, 1986·American Journal of Medical Genetics. Supplement·M RobinowJ A Bryant
Jan 1, 1986·American Journal of Medical Genetics. Supplement·J F ReynoldsJ M Opitz
Jan 1, 1979·American Journal of Medical Genetics·J C PettersenM J White
Jan 1, 1980·American Journal of Medical Genetics·E T Bersu
Apr 1, 1993·American Journal of Medical Genetics·L KobrynskiD L Albert
Jun 1, 1983·American Journal of Medical Genetics·B R Rollnick, C I Kaye
Jan 1, 1988·American Journal of Medical Genetics. Supplement·B R Rollnick
Mar 1, 1981·American Journal of Physical Anthropology·M A Aziz
Jan 1, 1990·American Journal of Medical Genetics. Supplement·J M Opitz, E F Gilbert-Barness

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Revista chilena de pediatría
G Morizon, M Aspillaga
Revista chilena de pediatría
M Aspillaga, I Avendaño
© 2021 Meta ULC. All rights reserved