Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features

2016 ◽  
Vol 59 (1) ◽  
pp. 39-42 ◽  
Author(s):  
Rosamaria Silipigni ◽  
Elisa Cattaneo ◽  
Marco Baccarin ◽  
Monica Fumagalli ◽  
Maria Francesca Bedeschi
Keyword(s):  
Developmental Delay ◽  
Clinical Features ◽  
Interstitial Deletion

Expanding Phenotype of Fetal Hydantoin Syndrome

PEDIATRICS ◽  
1982 ◽  
Vol 70 (2) ◽  
pp. 328-329
Author(s):  
Boris G. Kousseff ◽  
Edward R. Root
Keyword(s):  
Inguinal Hernia ◽  
Developmental Delay ◽  
Clinical Features ◽  
In Utero ◽  
Anterior Neck ◽  
Vascular Abnormalities ◽  
Cardiac Malformations ◽  
Clinical Observations

We read with interest the article by Bartoshesky et al1 on ophthalmic and lethal cardiac malformations in the newborn exposed to diphenylhydantoin in utero. The article makes an important point about previously undescribed clinical features of fetal hydantoin syndrome and emphasizes the generalized effect of diphenylhydantoin as a teratogen. To elaborate further on this point, we wish to share our clinical observations in two patients with fetal hydantoin syndrome. One patient,2 a male (Figure), showed subcutaneous vascular abnormalities (cystic hygromas, telangiectasias, and capillary phlebectasias) on the anterior neck and both axillae, in addition to developmental delay, esotropia, epicanthal folds, high palate, triphalangeal thumbs, hypoplastic nails, inguinal hernia, and seven arches on the fingertips.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

2010 ◽  
Vol 155 (1) ◽  
pp. 203-206 ◽  
Author(s):  
Sultan Cingöz ◽  
Iben Bache ◽  
Lise Bjerglund ◽  
Hans-Hilger Ropers ◽  
Niels Tommerup ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Male Patient ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Interstitial Deletion

Two cases of 11p13 interstitial deletion and unusual clinical features

2008 ◽  
Vol 26 (3) ◽  
pp. 247-249 ◽  
Author(s):  
K.-H. Gustavson ◽  
G. Annerén ◽  
L. Wranne
Keyword(s):  
Clinical Features ◽  
Interstitial Deletion

Interstitial deletion of 10q: Clinical features and literature review

1992 ◽  
Vol 43 (4) ◽  
pp. 701-703 ◽  
Author(s):  
Sandra Lobo ◽  
Jaroslav Cervenka ◽  
Arnold London ◽  
Mary Ella M. Pierpont
Keyword(s):  
Literature Review ◽  
Clinical Features ◽  
Interstitial Deletion

Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome

2006 ◽  
Vol 140A (7) ◽  
pp. 704-708 ◽  
Author(s):  
Sharon L. Wenger ◽  
Paul D. Grossfeld ◽  
Benjamin L. Siu ◽  
James E. Coad ◽  
Frank G. Keller ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Clinical Features ◽  
Interstitial Deletion ◽  
Jacobsen Syndrome
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