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Majewski Syndrome
Known as:
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly
, SHORT RIB-POLYDACTYLY SYNDROME, TYPE II
, SRTD6
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A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the…
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National Institutes of Health
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Related topics
Related topics
13 relations
Ambiguous Genitalia
Autosomal recessive inheritance
Cleft Palate
Hydrops Fetalis
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Broader (1)
Short Rib-Polydactyly Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2003
2003
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.
M. Digilio
,
B. Marino
,
A. Giannotti
,
B. Dallapiccola
,
John M Opitz
Birth defects research. Clinical and molecular…
2003
Corpus ID: 36336254
BACKGROUND RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and…
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Highly Cited
1998
Highly Cited
1998
Influence of dietary lysine on the utilization of zinc from zinc sulfate and a zinc-lysine complex by young pigs.
J. Cheng
,
E. Kornegay
,
Todd D. Schell
Journal of Animal Science
1998
Corpus ID: 10185936
We conducted two trials (n = 144 and 96) to evaluate the response of feeding either ZnSO4 x H2O or a zinc-lysine complex (ZnLys…
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1998
1998
Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.
Teresa Costa
,
Gale R. Ramsby
,
+5 authors
Petros Tsipouras
American journal of medical genetics
1998
Corpus ID: 23363865
Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied, clinically and radiographically, 10 affected…
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Review
1992
Review
1992
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.
Alain Verloes
,
Yves Gillerot
,
J. Langhendries
,
J. Fryns
,
L. Koulischer
American journal of medical genetics
1992
Corpus ID: 24596814
We report on a case of neonatal hypothalamic hamartoblastoma with holoprosencephaly, Hirschsprung disease, and tetramelic…
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1990
1990
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.
Journal of Medical Genetics
1990
Corpus ID: 45709306
We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic…
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1987
1987
Oro‐facial‐digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases
M. Silengo
,
Bell Gl
,
M. Biagioli
,
Piergiorgio Franceschini
Clinical Genetics
1987
Corpus ID: 5685347
Two patients with the oro‐facial‐digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial…
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Highly Cited
1986
Highly Cited
1986
Teratogenic effect of calcium edetate (CaEDTA) in rats and the protective effect of zinc.
C. Brownie
,
C. Brownie
,
D. Noden
,
L. Krook
,
M. Haluska
,
A. Aronson
Toxicology and Applied Pharmacology
1986
Corpus ID: 5944351
1982
1982
Morphogenesis of genetic preaxial polydactyly, polydactyly nagoya, pdn, in mice.
I. Naruse
,
Y. Kameyama
1982
Corpus ID: 49416481
The limb buds and foot plates ofl'dn mouse embryos were examined with caTtilage-stained cleared specimens, histological sections…
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1979
1979
Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?
A. Schinzel
Helvetica paediatrica acta
1979
Corpus ID: 34609134
A male patient presented with a pattern of congenital malformations including macrocephaly, absence of the corpus callosum…
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Highly Cited
1968
Highly Cited
1968
A new polydactyly/imperforate-anus/vertebral-anomalies syndrome?
Burhan Say
,
ParkS. Gerald
The Lancet
1968
Corpus ID: 7425151
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