TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 AS AN OUTCOME OF IN VITRO FERTILIZATION?

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 met...

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Published inGenetic counseling Vol. 25; no. 1; pp. 13 - 17
Main Authors KARAER, K, YÜKSEL, Z
Format Journal Article
LanguageEnglish
Published Genève Médecine & hygiène 2014
Éditions Médecine et Hygiène
Subjects
Abnormalities, Multiple - etiology
Biological and medical sciences
Birth control
Child
Female
Fertilization in Vitro - adverse effects
Fingers - abnormalities
Fingers - pathology
Fingers - physiopathology
General aspects. Genetic counseling
Gynecology. Andrology. Obstetrics
Hair Diseases - etiology
Hair Diseases - pathology
Hair Diseases - physiopathology
Humans
Langer-Giedion Syndrome - etiology
Langer-Giedion Syndrome - pathology
Langer-Giedion Syndrome - physiopathology
Language Development Disorders - etiology
Medical genetics
Medical sciences
Nose - abnormalities
Nose - pathology
Nose - physiopathology
Sterility. Assisted procreation
Turkey
Twins
Turkey
Human
Prognosis
Assisted procreation
IVF pregnancy
Syndrome
In vitro fertilization embryo transfer
Pregnancy
Tricho-Rhino-Phalangeal Syndrome
Genetic counseling
Evolution
Female
Phalanx
Woman
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Summary: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.
Bibliography:ObjectType-Case Study-2
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ISSN:1015-8146