1. Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
- Author
-
Karaer K and Yüksel Z
- Subjects
- Child, Female, Fingers pathology, Fingers physiopathology, Hair Diseases pathology, Hair Diseases physiopathology, Humans, Langer-Giedion Syndrome pathology, Langer-Giedion Syndrome physiopathology, Nose pathology, Nose physiopathology, Turkey, Twins, Abnormalities, Multiple etiology, Fertilization in Vitro adverse effects, Fingers abnormalities, Hair Diseases etiology, Langer-Giedion Syndrome etiology, Language Development Disorders etiology, Nose abnormalities
- Abstract
Trichorhinophalangeal syndrome type I [OMIM #190350] is an autosomal dominant disorder. Common features are: Slowly growing sparse hair, laterally thin eyebrows, bulbous tip of the nose, long philtrum, thin upper lip, protruding ears. Common skeletal anomalies include shortening of phalanges and metacarpals causing mild to severe brachydactyly, cone shaped epiphyses, hip dysplasia and short stature. Recently many reports have been published on the use of assisted reproductive technology (ART) and the increased risk of congenital major malformations or syndromes. We present a 6 years old Turkish Trichorhinophalangeal syndrome (TRPS) case of a twin pair after in vitro fertilization (IVF). TRPS with IVF pregnancy has not been reported previously. This new case reported herein will contribute to a better understanding whether ART pregnancy increases congenital malformations.
- Published
- 2014