Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?

We report the combination of hemifacial microsomia, external auditory canal atresia, deafness and acro-osteolysis in several members of a highly consanguineous Asian family. In addition Mullerian anomalies have been found in two female members of the family. The external auditory canal stenosis and Mullerian anomalies in this family are similar to those reported by Winter et al. [(1968) J Pediatr 72 : 88-93] and overlap with those found in Goldenhar syndrome and Mullerian duct/renal aplasia/cervicothoracic somite dysplasia (MURCS), CHARGE and VATER associations. However, to the authors' knowledge, acro-osteolysis has not been reported in patients with any of these conditions. Overall, the findings in this family appear to be unique and the presence of consanguinity suggests an autosomal recessive condition with variable expression.

Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome.

Patients with ataxia telangiectasia (AT) syndrome exhibit a high level of spontaneous chromosome aberrations, with hypersensitivity to gamma radiation and radiomimetic chemicals at the chromosomal and cellular level. Previously pregnancies at risk for AT have been screened solely by analysis of amniotic fluid samples. In this report we describe a cytogenetic approach to the prenatal diagnosis of AT using chorionic villus sampling (CVS). Levels of spontaneous and induced (gamma radiation and bleomycin) chromosome breakage were established in direct, semidirect, and culture preparations of CVS samples from normal pregnancies. The methods developed were then successfully applied to the screening of a pregnancy at risk for AT. Semidirect preparations showed normal levels of chromosome breakage, and this result was further confirmed in chorion, amniotic fluid, and lymphocyte cultures. In chorion villus samples, gamma radiation is probably the easiest and most reliable way of discriminating between unaffected fetuses and those with AT.

Out-patient treatment of haemorrhoids: a randomized clinical trial to compare rubber band ligation with phenol injection.

A prospective randomized clinical trial comparing rubber band ligation (RBL) with phenol injection in 269 patients with symptomatic haemorrhoids presenting to one surgical clinic over a 6 year period, has been carried out. Questionnaires were completed by 215 patients (106 RBL and 109 injection) with an average follow up of 2.75 years. A successful outcome was achieved in 89 per cent of those receiving RBL compared with 70 per cent for injection (P less than 0.001). All symptoms tended to respond more favourably to RBL, the results achieving statistical significance in patients complaining of bleeding and prolapse (P less than 0.01 and P less than 0.05 respectively). Complications from either technique were minimal. It is concluded that RBL is superior to phenol injection in the out-patient treatment of haemorrhoids.

Reflux nephropathy complicated by acute post-streptococcal glomerulonephritis.

A 7 years old male with severe bilateral vesicoureteral reflux developed acute renal failure without evidence of either infection or obstruction. The diagnosis of acute post-streptococcal glomerulonephritis was confirmed by clinical, serological and histological evaluation. The patient's creatinine clearance decreased from 25 ml/min/1.73 m2 to 10-13 ml/min/1.73 m2 following the acute nephritic episode and chronic dialysis therapy was required thereafter. This patient illustrates that a glomerular etiology should be suspected when acute renal failure occurs in a patient with reflux nephropathy and suggests that the prognosis of acute post-streptococcal glomerulonephritis may be worse in children with pre-existing renal disease.