File:DiGeorge Facial Features.jpg

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DiGeorge Patient information

A male infant was the first child of healthy, non-consanguineous parents of age 39 and 36 years. Due to menstrual dysfunction in the mother, artificial insemination was performed with an oocyte donation from a woman of unknown age. The child was born at 37 weeks of gestation and weighed 2450 g (10th–25th centile). At age 3 months he was referred to Pediatric Cardiology because of respiratory distress and an ASD (ostium secundum type) together with multiple muscular and perimembranous VSDs. He was examined by a clinical geneticist and noted to have some dysmorphic features such as a triangular facies with a slighty small chin and a broad nose (Figure 1a, b). He had a poor head control which he finally achieved at the age of 4 months. Cardiovascular surgery was performed at that time. At age 7 months he was re-evaluated; his growth parameters were: height 62.5 cm (< 5th centile), weight 5540 g (< 3rd centile) and OFC 41 cm (5–10th centile). He was not sitting unsupported yet.

Referencing

© 2009 Fernández et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

http://www.biomedcentral.com/1471-2350/10/48

Fernandez. L, Nevado. J, Santos. F, Heine-Suñer. D, Martinez-Glez. V, García-Miñaur. S, Palomo. R, Delicado. A, Pajares. IL, Palomares. M, García-Guereta. L, Valverde. E, Hawkins. F, Lapunzina. P (2009). A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Medical Genetics. 10 (48)

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