Sacrococcygeal dysgenesis association.
In the malformation analysis of 445 patients ascertained only for a sacrococcygeal malformation, a new phenotype, the sacrococcygeal dysgenesis association (SDA), was delineated in 34%. In addition, sirenomelia patients were found in 12%, the VATER association in 27%, and 27% could not be classified. Heterogeneity in the patients with sacrococcygeal malformations was identified by the differences found in their associated malformations. SDA patients have a relatively small average number (3.3) of anomalies per patient as compared with 9.3 in sirenomelia and 6.2 in VATER patients. SDA abnormalities occurred to a significant degree only in 6 of 20 designated malformation categories (vertebral, rib, pelvic, lower limb, central nervous system [CNS], renal) in contrast to 17 in VATER and 18 in sirenomelia patients. The SDA vertebral malformation pattern also differed from that of VATER/sirenomelia patients as did the high sacrococcygeal agenesis:dysgenesis ratio and low thoracolumbar vertebrae and/or rib hypersegmentations. Most significantly, SDA patients had a large number of CNS anomalies and CNS-related dysfunctions of the urinary and distal intestinal tracts but no anatomic urinary or intestinal tract malformations. This contrasted sharply with the markedly increased occurrences of anatomic abnormalities in these body regions of the sirenomelia and VATER patients. Demographic data such as patient survival, twinning and, particularly, the high (28%) incidence of maternal diabetes in the SDA further support its differentiation from VATER/sirenomelia patients.
Duncan
P A
PA
Department of Pediatrics, New York Medical College, Valhalla.
Shapiro
L R
LR
Klein
R M
RM
D000015:Abnormalities, Multiple / Q000145:classification / Q000196:embryology / Q000453:epidemiology* / Q000401:mortality; D001003:Anal Canal / Q000002:abnormalities / Q000196:embryology; D003050:Coccyx / Q000002:abnormalities / Q000196:embryology; D004200:Diseases in Twins / Q000453:epidemiology; D004480:Ectromelia / Q000196:embryology / Q000453:epidemiology* / Q000401:mortality; D004933:Esophageal Atresia / Q000196:embryology; D005260:Female; D005835:Genitalia / Q000002:abnormalities / Q000196:embryology; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007422:Intestines / Q000002:abnormalities / Q000196:embryology; D007866:Leg / Q000002:abnormalities / Q000196:embryology; D011247:Pregnancy; D011254:Pregnancy in Diabetics / Q000453:epidemiology; D012272:Ribs / Q000002:abnormalities / Q000196:embryology; D012445:Sacrococcygeal Region / Q000002:abnormalities* / Q000196:embryology; D012447:Sacrum / Q000002:abnormalities / Q000196:embryology; D015996:Survival Rate; D013577:Syndrome; D014551:Urinary Tract / Q000002:abnormalities / Q000196:embryology