A new syndrome of microtia with unilateral renal agenesis and short stature

We report on a 13‐month‐old girl of first cousin parents who presented with a combination of short stature, bilateral microtia, proportionate short stature, distinctive facial features (bitemporal narrowing, long philtrum), and agenesis of the left kidney and a small right kidney. Clinical findings...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2012-08, Vol.158A (8), p.1837-1840
Main Authors: Caglayan, Ahmet Okay, Stevens, Servi J.C., Albrechts, Jozefa C.M., Dundar, Munis, Engelen, John
Format: Article
Language:English
Subjects:
Biological and medical sciences
Body Height
Child, Preschool
Congenital Abnormalities
Congenital Microtia
Ear - abnormalities
Female
Humans
Kidney - abnormalities
Kidney Diseases - congenital
Kidneys
Malformations of the urinary system
Medical genetics
Medical sciences
microtia
Nephrology. Urinary tract diseases
renal agenesis
Syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We report on a 13‐month‐old girl of first cousin parents who presented with a combination of short stature, bilateral microtia, proportionate short stature, distinctive facial features (bitemporal narrowing, long philtrum), and agenesis of the left kidney and a small right kidney. Clinical findings did not match any previously described syndromes with the anomalies seen in the patient. We performed SNP array analysis to characterize the observation as a novel syndrome and this was normal. We propose that this represents a new syndrome, likely of autosomal recessive inheritance. © 2012 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33653