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September 1969

Picture of the Month

Am J Dis Child. 1969;118(3):483-484. doi:10.1001/archpedi.1969.02100040485012

Denouement and Discussion 

Trisomy 13-15  (D Trisomy; 47, XX or XY, D1; Patau's Syndrome)

Manifestations  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,