Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.
We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheoesophageal fistula, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, and hypospadias. This constellation of congenital anomalies appears to be a previously unreported autosomal recessive syndrome. A computerized search of the data files of the Spanish Collaborative Study of Congenital Malformations (ECEMC) identified 3 other unrelated infants with intestinal atresias, hypospadias, and low birth weight. These cases may represent a milder expression of the same syndrome.
Martínez-Frías
M L
ML
INSALUD, Hospital Universitario San Carlos, Madrid, Spain.
Frías
J L
JL
Galán
E
E
Domingo
R
R
Paisán
L
L
Blanco
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004065:Digestive System Abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014138:Tracheoesophageal Fistula / Q000175:diagnosis*