Intrapartum diagnostic of Roberts syndrome - case presentation

Vol. 56 No. 2 Suppl., 2015
This supplement was not sponsored by Outside Organizations.

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Razvan Vladimir Socolov, Nicoleta Ioana Andreescu, Ana Maria Haliciu, Eusebiu Vlad Gorduza, Florentin Dumitrache, Raluca Anca Balan, Maria Puiu, Mihaela Amelia Dobrescu, Demetra Gabriela Socolov

Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called pseudothalidomide disease ). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

Corresponding author: Nicoleta Ioana Andreescu, University Assistant, MD, PhD; e-mail: nicollandreescu@yahoo.com

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ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Raluca-Diana Suhani, Mihai-Flaviu Suhani, Alexandrina Muntean, Michaela-Florica Mesaros, Mindra-Eugenia Badea

Waardenburg syndrome is a rare form of neurocristopathy. It is a disorder in the development of neural crest cells, caused by an altered cellular migration during the embryonic phase. That alteration causes an association of different abnormalities such as pigmentary disturbances of the hair, iris, skin, stria vascularis of the cochlea, dystopia canthorum and sensorineural hearing loss. We report a case of a 14-year-old Romanian male, with a family history of Waardenburg syndrome (mother) and Usher syndrome (father - congenitally sensorineural hearing loss and retinal degeneration). The case particularities are: the correlation between malocclusion and Waardenburg syndrome due to hypoplastic alae nasi and also factors that produced hearing loss, which could be Waardenburg syndrome, Usher syndrome or the presence of the connexin 26 (W24X) gene mutation.

Corresponding author: Raluca-Diana Suhani, Teaching Assistant, PhD student; e-mails: raluca.suhani@gmail.com, raluca.suhani@umfcluj.ro

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