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May 1969

Unusual Malformations of the External Genitalia in Female Infants: Persistence of Labioscrotal Swellings and Scrotiform Malformations

Author Affiliations

From the Embryology Laboratory, Institute for the Care of Mother and Child, Prague. Dr. Jirásek is now a Lasby Visiting Professor at the Department of Oral Pathology, University of Minnesota, Minneapolis.

Am J Dis Child. 1969;117(5):580-582. doi:10.1001/archpedi.1969.02100030582014

THREEEE female children we have observed have certain anomalies of the external genitalia which do not correspond to any known type of genital malformation.

Report of Cases  Case 1.—An immature newborn child weighed 2,100 gm (4 lb 9 ounces) and was 44 cm (17 inches) long. Death occurred approximately 24 hours after delivery. The child was found to be chromatin-positive.Postmortem findings revealed proximal tracheoesophageal fistula, defect of ventricular septum approximately 2 mm in diameter, talipes calcaneovalgus, epicanthus, and malformation of pinnae. Adrenal glands, ovaries, and uterus were normal. External genitalia were malformed (Fig 1). On each side, laterally and superior to the external vaginal opening, were two cutaneous lobules measuring approximately 3 × 2 × 1 cm. The vagina was prolapsed and its opening partially covered with two cutaneous duplications which extended from the elevated phallic region. The urethral opening was between them and above the opening of the

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