RÉSUMÉ
Recently many reports have been published on the use of intracytoplasmic sperm injection (ICSI) and the increased risk of congenital major malformations or syndromes. We present three cases with Goldenhar syndrome (one of them a twin pair) and one case with Rubinstein-Taybi syndrome (RTS), also a twin pair. All four female cases are derived from ICSI. Goldenhar syndrome with ICSI pregnancy has been reported previously but as far as we know, RTS has not been described in association with assisted reproductive technology (ART). The four new cases reported herein will contribute to a better understanding whether ICSI pregnancy increases congenital malformations.
Sujet(s)
Adulte , Femelle , Syndrome de Goldenhar/étiologie , Humains , Grossesse , Issue de la grossesse , Syndrome de Rubinstein-Taybi/étiologie , Injections intracytoplasmiques de spermatozoïdes/effets indésirables , JumeauxRÉSUMÉ
We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 [HTT1], to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-[2-nitro-4-trifluoromethyl benzoyl]-1,3-cyclohexanedione in the treatment of HTT1
Sujet(s)
Humains , Femelle , Tyrosinémies/diagnostic , 4-hydroxyphenylpyruvate dioxygenase , Aminoacidopathies congénitales , Syndrome de Goldenhar/étiologieRÉSUMÉ
Apresentam-se dois pacientes portadores desta síndrome e discutem-se sua etiologia, quadro clínico e radiológico. As anomalias cardíacas se corrigiram durante a evoluçäo, porém as alteraçöes de coluna se acentuaram. As alteraçöes desta síndrome ocorrem entre a terceira e quarta semana de vida intra-uterina