Preferred Label : Circumvallate placenta syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Deacon et al. (1974) reported 3 sisters who died neonatally of respiratory insufficiency.
All 3 pregnancies were complicated by polyhydramnios, and each infant showed cutaneous
and intracranial hemorrhage, marked central nervous system depression and skeletal
abnormalities (over-tubulation of ribs and long bones of the limbs). Since the third
infant had a circumvallate placenta, the authors suggested that this might be a primary
and gene-determined defect. Familial occurrence of circumvallate placenta was reported
by Hunt (1953) and by Morgan (1955). *FIELD* RF 1. Deacon, J. S. R.; Gilbert, E. F.;
Viseskul, C.; Herrmann, J.; Opitz, J. M.: Polyhydramnios and neonatal hemorrhage in
three sisters. Birth Defects Orig. Art. Ser. 10(7): 41-49, 1974. 2. Hunt, A. B.: Discussion.
Am. J. Obstet. Gynec. 65: 497 only, 1953. 3. Morgan, J.: Circumvallate placenta. J.
Obstet. Gynaec. Brit. Commun. 62: 899-900, 1955. *FIELD* CS Respiratory: Respiratory
insufficiency Misc: Polyhydramnios; Circumvallate placenta Skin: Neonatal hemorrhage
Neuro: Neonatal central nervous system depression;
Inheritance : Autosomal recessive;
Prefixed ID : 215550;
Origin ID : 215550;
UMLS CUI : C1859089;
Currated CISMeF NLP mapping
HPO term(s)
Semantic type(s)
UMLS correspondences (same concept)