Denouement and Discussion
(D Trisomy; 47, XX or XY, D1; Patau's Syndrome)
Patients with this syndrome are usually small for date infants who fail to thrive, and they usually do not survive beyond the first year of life. They have a typical facial appearance which includes a large broad nose, cleft lip and palate, microcephaly, skin defects of the scalp, anophthalmia or microphthalmia, colobomas of the iris, epicanthal folds, corneal opacities, hypertelorism or hypotelorism, malformed and low-set ears, and micrognathia. The hands are held in a characteristic fashion with the fifth finger overlapping the fourth. Polydactyly, syndactyly, "rocker-bottom" feet, hyperconvex nails, single palmar crease, and abnormal dermatoglyphics are frequently present. Also associated with this syndrome are a short neck with accentuated skin folds resembling webbing, congenital heart disease, renal abnormalities, undescended testes, mental and motor retardation, holoprosencephaly, seizures, deafness, hypoplasia of the ribs, umbilical and inguinal hernias,
Gellis SS, Feingold M. Picture of the Month. Am J Dis Child. 1969;118(3):483–484. doi:10.1001/archpedi.1969.02100040485012
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: