RESUMO
A Thanatophoric dysplasia, is a severe congenital anomaly which mostly causes stillbirth or death of the affected baby within hours due to respiratory insufficiency. The diagnosis of TD is typically suspected on ultrasound during the second trimester of pregnancy, when severe shortening of the long bones, frontal bossing, flattened vertebrae, and short ribs that result in a narrow thorax and bell-shaped abdomen, can be seen. Here, we present a case with prenatal ultrasonographic findings suggestive of TD, and highlight the patient's postnatal dysmorphic features and typical radiographic findings. The definitive diagnosis of TD type I (TDI) was made postnatally, when molecular genetic analysis revealed the previously described p.R248C mutation in FGFR3. This case is reported due to its relative long life span and the definitive molecular diagnosis that could be made during hospitalization.
Assuntos
Análise Mutacional de DNA , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/deficiência , Displasia Tanatofórica/genética , Evolução Fatal , Triagem de Portadores Genéticos , Humanos , Lactente , Recém-Nascido , Cariotipagem , Patologia Molecular , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Sobrevida , Displasia Tanatofórica/diagnóstico , Displasia Tanatofórica/mortalidade , Ultrassonografia Pré-NatalRESUMO
The aim of this study was to compare the mean platelet volume (MPV) in babies of preeclamptic and normal pregnant women and to investigate the correlation between thrombocytopenia and MPV in the babies of preeclamptic mothers. A total of 63 newborns with similar gestational ages were included in this retrospective study. They were divided into three groups as 21 babies of preeclamptic mothers with thrombocytopenia (Group A), 21 without thrombocytopenia (Group B), and 21 babies of normal pregnant women without thrombocytopenia (Group C). Hematologic data of these patients, obtained in the first 72 h of their life, were obtained from their medical records. Groups were compared according to their birth weights, platelet counts, and MPV. Gestational ages and birth weights of all groups were similar. The platelet count of group A was significantly lower (P < 0.001). MPV seemed to increase as platelet counts decreased when the groups were compared. However, no significant correlation was found between MPV and platelet counts and no significant difference between MPVs (P = 0.052). Increase in MPV is accepted as a sign of platelet destruction and decrease as a sign of platelet production insufficiency. Our results showed that the cause of thrombocytopenia in babies of preeclamptic mothers cannot be explained with the help of MPV.
