4 research outputs found
Copper Metallurgy in the Jordan Valley from the Third to the First Millennia BC: Chemical, Metallographic and Lead Isotope Analyses of Artefacts from Pella
Diagnosis of MenkeāHennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
Abstract Introduction CREBBP truncating mutations and deletions are responsible for the wellāknown RubinsteināTaybi syndrome. Recently, a new, distinct CREBBPālinked syndrome has been described: missense mutations located at the 3ā² end of exon 30 and the 5ā² portion of exon 31 induce MenkeāHennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally. Method and Case Report Trioāwhole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28āweeks of gestation (WG). Results WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of MenkeāHennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of MenkeāHennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intraāuterine growth retardation, brain, and cardiovascular anomalies. Conclusion MenkeāHennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of MenkeāHennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging