We report on a 17-year-old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fibula. Radiological and clinical findings did not match with the previously described syndromes with the type of anomalies seen in the case. We propose that this represents a new syndrome.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31147DOI Listing

Publication Analysis

Top Keywords

hearing loss
8
renal agenesis
8
syndrome microtia
4
microtia mixed
4
mixed type
4
type hearing
4
loss renal
4
agenesis multiple
4
multiple skeletal
4
skeletal anomalies
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!