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September 1969, Vol 118, No. 3 >
Article | September 1969

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Sydney S. Gellis, MD; Murray Feingold, MD
[+] Author Affiliations

Received for publication Jan 27, 1969.

Reprint requests to Boston Floating Hospital, 20 Ash St, Boston 02111 (Dr. Gellis).


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

REFERENCES

1 +
Erkman, B.; Basrur, V.R.; and Conen, P.E.:  D/D Translocation "D" Syndrome , J Pediat 67:270-282 ( (Aug) ) 1965;.
2 +
Conen, P.E.; Erkman, B.; and Metaxotou, C.:  The "D" Syndrome , Amer J Dis Child 111: 236-247 ( (March) ) 1966;.
3 +
Lee, C.S., et al:  The D, Trisomy Syndrome: Three Subjects With Unequally Advancing Development , Bull Hopkins Hosp 118:374-394 ( (May) ) 1966;.
4 +
Taylor, A.I.:  Autosomal Trisomy Syndromes: A Detailed Study of 27 Cases of Edward's Syndrome and 27 Cases of Patau's Syndrome , J Med Genet 5:227-256 ( (Sept) ) 1968;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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References

1 +
Erkman, B.; Basrur, V.R.; and Conen, P.E.:  D/D Translocation "D" Syndrome , J Pediat 67:270-282 ( (Aug) ) 1965;.
2 +
Conen, P.E.; Erkman, B.; and Metaxotou, C.:  The "D" Syndrome , Amer J Dis Child 111: 236-247 ( (March) ) 1966;.
3 +
Lee, C.S., et al:  The D, Trisomy Syndrome: Three Subjects With Unequally Advancing Development , Bull Hopkins Hosp 118:374-394 ( (May) ) 1966;.
4 +
Taylor, A.I.:  Autosomal Trisomy Syndromes: A Detailed Study of 27 Cases of Edward's Syndrome and 27 Cases of Patau's Syndrome , J Med Genet 5:227-256 ( (Sept) ) 1968;.

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