Delaval, Benedicte; Doxsey, Stephen. Genetics. Dwarfism, where pericentrin gains stature. Science (New
York, N.Y.). vol. 319, no. 5864 (2008 Feb 8): 732-3
MedLine, 1950-Present found on February 21st using the
search term "Dwarfism". The authors are from the University of
Massachusetts Medical School.
Abstract: Fundamental processes influencing human growth
can be revealed by studying extreme short stature. Using
genetic linkage analysis, we find that biallelic loss-of-function
mutations in the centrosomal pericentrin (PCNT) gene on
chromosome 21q22.3 cause microcephalic osteodysplastic
primordial dwarfism type II (MOPD II) in 25 patients. Adults with
this rare inherited condition have an average height of 100
centimeters and a brain size comparable to that of a 3-month-
old baby, but are of near-normal intelligence. Absence of
PCNT results in disorganized mitotic spindles and
missegregation of chromosomes. Mutations in related genes
are known to cause primary microcephaly (MCPH1,
CDK5RAP2, ASPM, and CENPJ).
(1994).Biomedicine. Science News . 146, No. 14, 221.
JSTOR, found on February 21st using the search term
"dwarfism". The author is Science News Journal.
Abstract: It talks about how scientist have tracked down the
genetic bases of two more skeletal abnormalities underlying
short stature which can aid genetic testing and ultimately
help
lead to the prevention or treatment for dwarfism.
Franklin, D. (1984).Gene defect linked to a common dwarfism. Science News of the
Week . 125, No, 19, 292.
JSTOR, Found on February 21st using the search
term
"achondroplasia". The author is D. Franklin.
Abstract: This journal article talks about a gene defect that
they
have found that is linked to the most common form of dwarfism
called achondroplasia.
Palomero, M A; Vargas, M C; Pelaez, E M; Rodriguez-Ceron, A; Sanchez-Conde, P; Muriel, C. Spinal anaesthesia
for emergency Caesarean section in an achondroplastic patient. European Journal of Anaesthesiology. vol. 24,
no. 11 (2007 Nov): 981-2.
Medline, 1950-Present found on February 21st
using the
search term "achondroplasia". The authors are from the
Department of Anesthesiology at the University Hospital of
Salamanca, Spain.
Abstract: This article talks about a lady with achondroplasia
giving birth and needing a caesarean section. It talks about the
problems with anestesia and gives details of the birth and how
it was handled. It also gives details on achondroplasia.
(2008, Feb. 25). MedLine Plus. Retrieved March 1, 2008, from Dwarfism Web site: http://www.nlm.nih.gov/medlineplus/dwarfism.html
