Early prenatal sonographic diagnosis and follow‐up of Jeune syndrome

Abstract

ABSTRACT

First‐trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness

“…To the best of our knowledge and after inclusion of this report, 39 cases of skeletal dysplasia diagnosed in the first trimester of pregnancy have been reported in the last decade5–34. Of these 39 cases, all involved severe skeletal dysplasia and 30 (77%) were lethal (Table 1).…”

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

“…The findings in these cases included: hypoplastic nails, gingival hyperplasia and bifid tongue [1 case from Cortina et al, 1979]; overlapping findings of EvC [Brueton et al, 1990]; small abnormal teeth, and postaxial polydactyly of the hands [Casteels et al, 2000]; overgrowth of membranous bone [Edelson et al, 1974]; facial dysmorphism and broad thumbs [Sankar and Phadke, 2006]; microcephaly, preaxial polydactyly of feet and postaxial polydactyly of unilateral hand, lobulation of the tongue and gingiva [Tahernia and Stamps, 1977]; cleft palate and prominent frenula (1st case), and tetralogy of Fallot with polydactyly (2nd case) [2/7 cases from Turkel et al, 1985]. Application of the diagnostic criteria led to the designation of 118 cases (79%) of Jeune syndrome from the original total [Jeune et al, 1955;Herdman and Langer, 1968;Say et al, 1969;Cremlin, 1970;Russell and Chouksey, 1970;Kozlowski and Masel, 1976;Elejalde et al, 1985;Giorgi et al, 1990;Aronson et al, 1999;Tongsong et al, 1999;Poggiani et al, 2000;den Hollander et al, 2001;Kaddoura et al, 2001;Das et al, 2002;Norberg, 2002;Hall et al, 2003;Haycraft et al, 2005;Huang et al, 2008;O'Connor et al, 2008;Phillips and van Aalst, 2008]. Table I provides a summary of the findings of our patients, and the frequency of findings in the 118 cases in the literature.…”

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.…”