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Article
August 1987

Picture of the Month

Author Affiliations

Section Editor
Contributed from the National Birth Defects Center, Kennedy Memorial Hospital, Brighton, Mass.

Am J Dis Child. 1987;141(8):905-906. doi:10.1001/archpedi.1987.04460080091036
Abstract

The statements listed below are best associated with which of the above figures:

  • (a) Chromosomal analysis should be strongly considered.

  • (b) Evaluation of the renal system is indicated.

  • (c) The presence of a dissecting aneurysm should be investigated.

  • (d) Cardiac and other congenital anomalies occur in approximately 20% of these patients.

Denouement and Discussion  Fig 1.—Asymmetric crying faces due to absence or hypoplasia of depressor anguli oris muscle.Fig 2.—Upward and outward slant of palpebral fissures, broad bridge of nose, and epicanthal folds in infant with Down's syndrome.Fig 3.—Thumb sign (thumb protruding beyond ulnar border with hand held in fistlike position) in patient with Marfan's syndrome.Fig 4.—Deficiency of abdominal muscles.(a) The physical findings in Fig 2 are present in patients with Down's syndrome. Chromosomal analysis differentiates among the three types of Down's syndrome: (1) trisomy 21 (occurs in approximately 96% of patients, (2) translocation, and (3) mosaicism.

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