scholarly journals Multiple Congenital Abnormalities (Orbeli Syndrome)

2019 ◽  
Vol 16 (1) ◽  
Author(s):  
Shweta Mishra ◽  
Piyush Chandel ◽  
Supriya Bisht
Keyword(s):  
Congenital Abnormalities ◽  
Multiple Congenital Abnormalities

A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings

PEDIATRICS ◽  
1971 ◽  
Vol 47 (3) ◽  
pp. 610-612
Author(s):  
Richard L. Neu ◽  
Tadashi Kajii ◽  
Lytt I. Gardner ◽  
Stephen F. Nagyfy ◽  
Saddie King
Keyword(s):  
Corpus Callosum ◽  
Congenital Anomalies ◽  
Congenital Abnormalities ◽  
Clinical Findings ◽  
Cytogenetic Abnormality ◽  
Multiple Congenital Anomalies ◽  
Multiple Congenital Abnormalities

The clinical findings are described in three siblings with a syndrome of microcephaly and multiple congenital abnormalities. All three infants had congenital anomalies of the limbs, described as flexion deformities. Infant 2 showed atrophic gyri and absence of the corpus callosum, with atrophy of cerebrum, cerebellum, and pons. Infant 2 exhibited unusual canine facies. Chromosomal studies were normal on infant 3 (leucocyte and skin cultures). Leucocyte cultures from the mother and father revealed no cytogenetic abnormality.

A derivative chromosome 13pat in a subject with multiple congenital abnormalities

1979 ◽  
Vol 24 (3) ◽  
pp. 197-197 ◽  
Author(s):  
G. Kohn ◽  
M.M. Cohen ◽  
M.M. Aronson ◽  
A.E. Greene ◽  
L.L. Coriell
Keyword(s):  
Congenital Abnormalities ◽  
Derivative Chromosome ◽  
Multiple Congenital Abnormalities

scholarly journals Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3′ MECOM

Haematologica ◽  
2018 ◽  
Vol 103 (4) ◽  
pp. e173-e176 ◽  
Author(s):  
Lars T. van der Veken ◽  
Merel C. Maiburg ◽  
Floris Groenendaal ◽  
Mariëlle E. van Gijn ◽  
Andries C. Bloem ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Congenital Abnormalities ◽  
Bone Marrow Failure ◽  
Bone Marrow Failure Syndrome ◽  
Limb Defects ◽  
Multiple Congenital Abnormalities

Isochromosome 20p associated with multiple congenital abnormalities

2005 ◽  
Vol 14 (1) ◽  
pp. 49-50 ◽  
Author(s):  
Alan E Fryer ◽  
Michael Ashworth ◽  
Jed Hawe ◽  
David Pilling ◽  
Margaret Pauling ◽  
...  
Keyword(s):  
Congenital Abnormalities ◽  
Multiple Congenital Abnormalities

scholarly journals Gingival Bleeding in a Child with Fanconi Anemia: A Case Report and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Dorsaf Touil ◽  
Rahma Bouhouch ◽  
Raoua Belkacem Chebil ◽  
Lamia Oualha ◽  
Nabiha Douki
Keyword(s):  
Fanconi Anemia ◽  
Autosomal Recessive ◽  
Congenital Abnormalities ◽  
Bone Marrow Failure ◽  
Autosomal Recessive Disorder ◽  
Oral Manifestations ◽  
Gingival Bleeding ◽  
Oral Conditions ◽  
Multiple Congenital Abnormalities

Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by multiple congenital abnormalities, bone marrow failure, and higher susceptibility to malignancies, especially to head and neck carcinomas. Only few reports about the oral manifestations of FA are available. The main reported oral conditions associated with FA are microdontia and advanced periodontitis. The aim of this paper was to report a case of a 10-year-old patient with FA presenting severe spontaneous gingival bleeding, as well as to discuss the role of the dentist in the management and treatment of this condition.

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