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Figure 1. Facial appearance of Patients 1 and 2. Patient 1 (a, b); Patient 2 (c).
Patient 1: 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.
Patient 2: A male newborn was born to healthy 37 year-old parents after Cesarean section due to lack of progress at 33 weeks of gestation. Birthweight was 2290 g (75th centile). He was referred to the Neonatology intensive care unit because of respiratory distress. He was noted to have a right cleft lip with a complete cleft palate, and upslanting palpebral fissures with no other significant features on examination. He made good progress and was finally discharged two weeks later. He was reviewed in clinic at age five months. His development was within the normal range. His growth parameters were: height 62 cm, weight 6500 g and OFC 42.5 cm (all measurements between the 10th and 25th centiles) (Figure 1c). His cleft lip had been repaired and the cleft palate operation was scheduled for the age of nine months. A later review at age 13 months and a half showed a good progress and a normal development.
© 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.
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Luis Fernández1,2 , Julián Nevado1,2 , Fernando Santos1,2 , Damià Heine-Suñer3 , Victor Martinez-Glez1,2 , Sixto García-Miñaur1,2 , Rebeca Palomo1,2 , Alicia Delicado1,2 , Isidora López Pajares1,2 , María Palomares1,2 , Luis García-Guereta4 , Eva Valverde5 , Federico Hawkins5 and Pablo Lapunzina1,2
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|current||16:58, 9 September 2011||691 × 800 (64 KB)||S8600021|
|15:39, 7 September 2011||1,200 × 1,394 (199 KB)||Z3288729||Figure 1. Facial appearance of Patients 1 and 2. Patient 1 (a, b); Patient 2 (c). Patient 1: 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 inseminat|