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 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.
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Karaer
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Yüksel
D000015:Abnormalities, Multiple / Q000209:etiology*; D002648:Child; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects*; D005385:Fingers / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D006201:Hair Diseases / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D007805:Language Development Disorders / Q000209:etiology*; D009666:Nose / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D014421:Turkey; D014427:Twins