Nicole Philip — Page 2

PubMedDate not supplied

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Microdeletion at the 22q11 locus is characterised by a high clinical variability. Congenital heart defects (CHD) are the most life-threatening manifestations of the syndrome and affect approximately 50% of patients carrying the deleted chromosome 22. The causes of this phenotype variability remain unknown although several hypotheses have been raised. It has been suggested that allelic variations at the haploid locus could modify the phenotypic expression. Regarding this hypothesis, TBX1 was thought to be a major candidate to the cardiac phenotype or its severity in patients carrying the 22q11 microdeletion. A mutational screening was performed in this gene, in a series of 39 deleted patients, with and without CHD. The results indicate that mutations in TBX1 are not likely to be involved in the cardiac phenotype observed in del22q11 patients.

Alleles↗

PubMedDate not supplied

Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas.

OBJECTIVE: Bowing of the long bones can be easily detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, each denoting a different prognosis. Among these conditions, three well-differentiated bone dysplasias share bowed long bones as a main clinical manifestation. Campomelic dysplasia and Stüve-Wiedemann syndrome are characterized by a poor prognosis. Conversely, the overall prognosis of children affected with kyphomelic dysplasia is good, the intelligence and motor development are normal and the radiological abnormalities tend to improve and regress with age. CASE REPORT: We report a case of prenatal detection of short and bowed femora at the 22nd week of gestation. Careful US examination as well as in utero X-ray of the skeleton allowed the exclusion of campomelic dysplasia. In the absence of an unambiguous diagnosis, the pregnancy was continued. At birth, the child presented with clinical and radiological features consistent with a diagnosis of kyphomelic dysplasia. CONCLUSION: This case illustrates the difficulties in making an accurate diagnosis and consequently giving a prognosis when isolated femoral bowing is found on fetal ultrasound examination.

Abnormalities, Multiple↗