Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
Roberts-SC phocomelia syndrome is a rare autosomal recessive disorder characterized by morphological anomalies such as limb defects and midfacial clefting, and by premature centromeric division in chromosomal study. Although it has been regarded as a single genetic entity and includes various morphologic defects, babies are being reported nowadays with severe facial defects, tetra-amelia, and pulmonary abnormality, yet with normal chromosomal findings. We have added a case resembling Roberts syndrome with various congenital anomalies. A gestation with a fetus was terminated at 24 weeks of gestational age because of multiple fetal anomalies. Postmortem examination revealed a severe mid-facial cleft, tri-amelia and phocomelia, multiple encephaloceles, protruding and hypoteloric eyes, low-set ears, atrial septal defect of ostium secundum type, patent ductus arteriosus, bilateral two-lobed lungs with incomplete lobation, multiple visceral anomalies, a penis without scrotum, abnormal dermoglyphics, and absence of nipples.
Song
S Y
SY
Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
Chi
J G
JG
D000015:Abnormalities, Multiple / Q000145:classification* / Q000196:embryology; D000028:Abortion, Induced; D004480:Ectromelia / Q000196:embryology / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006257:Head / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000196:embryology / Q000235:genetics*; D006801:Humans; D008297:Male; D011247:Pregnancy; D013577:Syndrome