Access the full text.
Sign up today, get DeepDyve free for 14 days.
F. Alpay, D. Gül, M. Lenk, G. Oǧur (2000)
Severe Intrauterine Growth Retardation, Aged Facial Appearance, and Congenital Heart Disease in a Newborn with Johanson–Blizzard SyndromePediatric Cardiology, 21
I. Park, A. Johanson, H. Jones, R. Blizzard (1972)
Special Female Hermaphroditism Associated with Multiple DisordersObstetrics & Gynecology, 39
K. Kristjánsson, W. Hoffman, D. Flannery, Morris Cohen (1988)
Johanson-Blizzard syndrome and hypopituitarism.The Journal of pediatrics, 113 5
N. Jones, P. Hofley, P. Durie (1994)
Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development.The Journal of pediatrics, 125 3
S. Rudnik-Schöneborn, B. Keller, F. Beemer, K. Pistor, H. Veye, K. Zerres (1991)
Johanson-Blizzard-SyndromKlinische Pädiatrie, 203
A. Johanson, A. Johanson, R. Blizzard, R. Blizzard (1971)
A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.The Journal of pediatrics, 79 6
R. Auslander, O. Nevo, R. Diukman, E. Morrad, M. Bardicef, H. Abramovici (1999)
Johanson–Blizzard syndrome: a prenatal ultrasonographic diagnosisUltrasound in Obstetrics and Gynecology, 13
B. Sandhu, Brueton Mj (1989)
Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome.Journal of pediatric gastroenterology and nutrition, 9 4
M. Mardini, M. Ghandour, N. Sakati, W. Nyhan (1978)
Johanson‐Blizzard syndrome in a large inbred kindred with three involved membersClinical Genetics, 14
R. Wettke-Schäfer, G. Kantner (2004)
X-linked dominant inherited diseases with lethality in hemizygous malesHuman Genetics, 64
Michael Patiton (1988)
Syndrome of themonth
Ruth Gershoni-Baruch, Aaron Lerner, Jacob Braun, Yossef Katzir, Theodore Iancu, Avraham Benderly (1990)
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome.American journal of medical genetics, 35 4
K. Nagashima, H. Yagi, T. Kuroume (1993)
A case of Johanson‐Blizzard syndrome complicated by diabetes mellitusClinical Genetics, 43
J. Moeschler, M. Lubinsky, J. Opitz, J. Reynolds (1985)
Johanson-Blizzard syndrome with normal intelligence.American journal of medical genetics, 22 1
I. Helin, U. Jodal (1981)
A syndrome of congenital hypoplasia of the alae nasi, situs inversus, and severe hypoproteinemia in two siblings.The Journal of pediatrics, 99 6
Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. café-aulait spots.
Indian Journal of Pediatrics – Springer Journals
Published: Dec 1, 2004
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.