Stippling: a first trimester marker for thanatophoric dysplasia type I

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis

“…Despite the high number of clinically defined bone dysplasias, only a limited collection of them may present in the early prenatal period with abnormal ultrasound. After careful scrutiny of the literature, we were able to identify first trimester prenatally diagnosed cases belonging to TDs [Ferreira et al, 2004;De Biasto et al, 2005;Beuke et al, 2010;Tonni et al, 2010], atelosteogenesis group (i.e., atelosteogenesis type 1, 2, and 3, and boomerang dysplasia) [Fernandez-Aguilar et al, 2005;Cordier et al, 2008], perinatal/ lethal hypophosphatasia [Tongsong and Pongsatha, 2000], campomelic dysplasia [Michel-Calemard et al, 2004;Massardier et al, 2008], achondrogenesis type 1A and B and 2 [Soothill et al, 1993;Meizner and Barnhard, 1995], short rib (-polydactyly) group (i.e., short rib-polydactyly type I, II, III, and IV, Ellis-van Creveld syndrome, Jeune syndrome and severe forms of oro-facial-digital syndromes) [Hill and Leary, 1998;Den Hollander et al, 2001;Dugoff et al, 2001;R€ osing et al, 2008], and Blomstrand dysplasia [Den Hollander et al, 1997]. In theory, other lethal osteocondrodysplasias, such as some platyspondylic lethal chodrodysplasias, Schneckenbecken and Greenberg dysplasias, are so severe to determine first trimester fetal anomalies, but we failed to identify such cases in the literature.…”

Use of rosin‐based nonionic surfactants as petroleum crude oil sludge dispersants

“…Despite the high number of clinically defined bone dysplasias, only a limited collection of them may present in the early prenatal period with abnormal ultrasound. After careful scrutiny of the literature, we were able to identify first trimester prenatally diagnosed cases belonging to TDs [Ferreira et al, 2004; De Biasto et al, 2005; Beuke et al, 2010; Tonni et al, 2010], atelosteogenesis group (i.e., atelosteogenesis type 1, 2, and 3, and boomerang dysplasia) [Fernandez‐Aguilar et al, 2005; Cordier et al, 2008], perinatal/lethal hypophosphatasia [Tongsong and Pongsatha, 2000], campomelic dysplasia [Michel‐Calemard et al, 2004; Massardier et al, 2008], achondrogenesis type 1A and B and 2 [Soothill et al, 1993; Meizner and Barnhard, 1995], short rib (‐polydactyly) group (i.e., short rib‐polydactyly type I, II, III, and IV, Ellis–van Creveld syndrome, Jeune syndrome and severe forms of oro‐facial‐digital syndromes) [Hill and Leary, 1998; Den Hollander et al, 2001; Dugoff et al, 2001; Rösing et al, 2008], and Blomstrand dysplasia [Den Hollander et al, 1997]. In theory, other lethal osteocondrodysplasias, such as some platyspondylic lethal chodrodysplasias, Schneckenbecken and Greenberg dysplasias, are so severe to determine first trimester fetal anomalies, but we failed to identify such cases in the literature.…”