TY - JOUR
T1 - Pseudo-Roberts Syndrome
T2 - An Entity or Not?
AU - Salari, Behzad
AU - Dehner, Louis P.
N1 - Publisher Copyright:
© 2020 Taylor & Francis Group, LLC.
PY - 2022
Y1 - 2022
N2 - Background: Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2 mutation. Case report: Pre- and post-natal imaging and autopsy findings included schizencephaly, phocomelia of four limbs, micrognathia, oligodactyly, and cardiopulmonary malformations. Microcephaly on pre-natal imaging was not confirmed by autopsy examination. Karyotype, prenatal chromosome microarray and ESCO2 gene testing were normal. Conclusion: Given the various skeletal anomalies found on autopsy and imaging evaluations, at least phenotypically, our case appeared to conform into Roberts syndrome spectrum. Since the infant did not have the mutation associated with this disorder, this infant could be labeled as the first report of a pseudo-Roberts syndrome because many of his phenotypic anomalies are characteristic of Roberts syndrome in absence of the ESCO2 gene mutation.
AB - Background: Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2 mutation. Case report: Pre- and post-natal imaging and autopsy findings included schizencephaly, phocomelia of four limbs, micrognathia, oligodactyly, and cardiopulmonary malformations. Microcephaly on pre-natal imaging was not confirmed by autopsy examination. Karyotype, prenatal chromosome microarray and ESCO2 gene testing were normal. Conclusion: Given the various skeletal anomalies found on autopsy and imaging evaluations, at least phenotypically, our case appeared to conform into Roberts syndrome spectrum. Since the infant did not have the mutation associated with this disorder, this infant could be labeled as the first report of a pseudo-Roberts syndrome because many of his phenotypic anomalies are characteristic of Roberts syndrome in absence of the ESCO2 gene mutation.
KW - Roberts syndrome
KW - autopsy
KW - phocomelia
KW - tetra-phocomelia
UR - http://www.scopus.com/inward/record.url?scp=85092360962&partnerID=8YFLogxK
U2 - 10.1080/15513815.2020.1827320
DO - 10.1080/15513815.2020.1827320
M3 - Article
C2 - 33026893
AN - SCOPUS:85092360962
SN - 1551-3815
VL - 41
SP - 396
EP - 402
JO - Fetal and Pediatric Pathology
JF - Fetal and Pediatric Pathology
IS - 3
ER -