ABSTRACT
We report two cases with hemifacial microsomia with body asymmetry associated with mosaic trisomies. The child with mosaic trisomy 9 had skin pigmentary changes. In the boy with mosaic trisomy 22, the extra chromosome 22 originated from a maternal meiosis I error.
Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 22 , Chromosomes, Human, Pair 9 , Facial Asymmetry/genetics , Mosaicism/pathology , Humans , Infant, Newborn , Male , MeiosisSubject(s)
Abnormalities, Multiple/diagnosis , Colon/abnormalities , Urinary Bladder/abnormalities , Abnormalities, Multiple/diagnostic imaging , Adult , Diagnosis, Differential , Female , Humans , Infant, Newborn , Intestinal Obstruction/diagnosis , Intestinal Obstruction/diagnostic imaging , Male , Peristalsis , Pregnancy , Pregnancy Trimester, Second , Syndrome , Ultrasonography, PrenatalABSTRACT
UNLABELLED: The management of the preterm fetus with hydrops due to complete congenital heart block is difficult. The outcome is frequently associated with significant morbidity and mortality. Two fetuses presented at the post menstrual age of 29 and 30 weeks respectively with severe hydrops due to complete heart block. The following staged approach was adopted: (1) enhance fetal lung maturation with maternal corticosteroids and thyroid releasing hormone for 48 h; (2) elective Caesarean section; (3) classical neonatal management consisting of intubation and ventilation, drainage of all cavities with effusions; (4) increase neonatal heart rate by administration of i.v. isoprenaline, by bipolar trans-oesophageal pacing or epicutaneo-oesophageal pacing; (5) after the regression of the hydrops, start epicardial pacing after implantation of 2 or 3 temporary epicardial 3/0 pacemaker; (6) implantation of a permanent abdominal pacing system with steroid epicardial tip once the threshold exceeds 20 mA or when the baby weighs more than 1500 g. In these patients a permanent pacing system was implanted at the ages of 8 weeks (2045 g) and 4 weeks (1560 g) respectively. No major complications occurred; the cardiac outcome with 37 and 34 months of follow up is excellent. CONCLUSION: This proposed staged approach with temporary epicardial leads can improve the outcome of hydropic fetuses due to complete congenital AV block.
Subject(s)
Cardiac Pacing, Artificial/methods , Heart Block/congenital , Hydrops Fetalis/therapy , Infant, Premature , Adult , Female , Heart Block/therapy , Humans , Infant, Newborn , Lupus Erythematosus, Systemic , Male , Pregnancy , Pregnancy Complications , Pregnancy in DiabeticsABSTRACT
A submicroscopic deletion of chromosome 22q11 was demonstrated in three triplets and in their father. Two children had the typical DiGeorge sequence with at least three of the four cardinal features: conotruncal heart disease, hypoplastic thymus and typical facial features. Hypoparathyroidism was present in one of them. The third child had features of both DiGeorge and velo-cardio-facial syndrome (VCFS). The father presented with features compatible with VCFS. This observation further illustrates the wide variability in expression of a submicroscopic deletion of 22q11, even within one family.
