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.
Brady
A F
AF
Kennedy-Galton Centre, North West London Hospitals NHS Trust, Middlesex, HA1 3UJ, UK. a.brady@ic.ac.uk
Winter
R M
RM
Wilson
L C
LC
Tatnall
F M
FM
Sheridan
R J
RJ
Garrett
C
C
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D030981:Acro-Osteolysis / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D003638:Deafness / Q000473:pathology*; D003937:Diagnosis, Differential; D004424:Ear Canal / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009095:Mullerian Ducts / Q000002:abnormalities*; D010375:Pedigree