Prenatal Diagnosis of Roberts Syndrome: Two New Cases

Baller-Gerold syndrome associated with congenital portal venous malformation.

“…The association of craniosynostosis and preaxial upper limb malformations was first reported by Baller' in a 26 year old woman with turricephaly, short stature, right radial aplasia, and left radial hypoplasia. Her parents were third cousins twice removed.…”

Upper Limb Phocomelia Associated With Increased Nuchal Translucency in a Monochorionic Twin Pregnancy

“…28 Centromere puffing has also been observed in both amniocytes and chorionic villus samples. 31,32 Thrombocytopenia has been reported occasionally in association with a Roberts syndrome phenotype, and an overlap between Roberts syndrome and TAR syndrome may exist. 33,34 In the present case, it was not possible to confirm or exclude the presence of thrombocytopenia.…”

MCA syndrome with renal‐hepatic‐pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies

“…The concurrence of symmetrical limb deficiencies and cleft palate are features known to occur in Roberts syndrome, another rare autosomal recessive MCA syndrome characterized by symmetrical limb defects, midfacial clefting, and premature centromeric division in chromosome studies [Fryns et al, 1987; Wertelecki, 1990; Benzacken et al, 1996; de Ravel et al, 1997; Pavlopoulos et al, 1998]. In affected children, abnormal brain segmentation, interocular encephalocoeles, ocular malformations, maxillary agenesis, agenesis of the nostrils, and spina bifida have also been documented [Wertelecki, 1990].…”