Atypical Cornelia de Lange Syndrome: a case report

Abstract

Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation.We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy.

Sedimentological and ichnological characterization of delta front mouth bars in a river‐dominated delta (Upper Cretaceous) from the La Anita Formation, Austral Basin, Argentina

“…The rift stage (Middle–Late Jurassic) was dominated by extensional processes during the fragmentation of Western Gondwana (Uliana et al ., 1985; Biddle et al ., 1986; Macellari et al ., 1989), which resulted in the accumulation of volcanic, volcanoclastic and siliciclastic rocks of the El Quemado Complex and the Tobífera Series (Riccardi, 1971; Leanza, 1972) (Fig. 1B).…”

“…The thermal sag phase occurred during the Late Jurassic–Early Cretaceous, and it is associated with crustal cooling, strong thermal subsidence and the concomitant maximum marine expansion within the basin (Biddle et al ., 1986; Robbiano et al ., 1996). During this stage, transgressive successions of the Springhill Formation accumulated (Thomas, 1949; Leanza, 1972; Riccardi, 1977; Macellari et al ., 1989; Robbiano et al ., 1996), being covered by black shales with high organic content of the Río Mayer, Zapata and Palermo Aike formations (Katz, 1963; Leanza, 1972; Riccardi & Rolleri, 1980; Robbiano et al ., 1996; Richiano et al ., 2012, 2015) (Fig. 1B).…”

“…During the Campanian–Maastrichtian, a series of asymmetrical clastic wedges, composed of fluvial–lacustrine, fluvial and deltaic deposits, prograded from the north‐west to the south/south‐east. The La Anita Formation, dominated by coarse to fine‐grained sandstone with minor intercalations of conglomerate and mudstone, is part of this prograding wedge system (Feruglio, 1949–1950; Leanza, 1972; Furque, 1973; Riccardi & Rolleri, 1980; Manassero, 1988; Arbe, 1989, 2002; Macellari et al ., 1989; Buatois et al ., 2011; Moyano Paz et al ., 2018, 2020, 2022) (Fig. 1B).…”

New Insights on theAristonectes parvidens(Plesiosauria, Elasmosauridae) Holotype: News on an Old Specimen

“…Los "Estratos de Mata Amarilla" (Feruglio, en Fossa Mancini et al, 1938) o Formación Mata Amarilla (Bianchi, 1967;Leanza, 1972;Russo y Flores, 1972), se corresponden con lo que Ameghino (1906) denominó "Sehuenense".…”

Nanofósiles Calcáreos y Bioestratigrafía del Cretácico del Sudeste de la Cuenca Austral, Patagonia, Argentina

“…Recién en las últimas décadas, las síntesis realizadas por Leanza (1972), Blasco de Nullo et al (1980), Riccardi y Rolleri (1980), Nullo et al (1981aNullo et al ( , 1981b, Malumián et al (1983), Arbe (1989), Robbiano et al (1996), Malumián (1999), Nullo et al (1999), Haller (2002) y Rodríguez y Miller (2005) han permitido comprender aspectos generales de la historia y evolución de esta cuenca, y correlacionar el registro geológico entre sus diferentes sectores.…”