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Abstract

This patient is one of a twinpair born after a full-term uncomplicated pregnancy with a birth weight of 1500 g; the twin brother, who weighed 4000 g at birth, and the other 9 brothers and sisters are all healthy. No mental or other illnesses are known in the family. The maternal age at the patient’s birth was 32 years. The patient had feeding problems and developed slowly. From the age of one year she often had otitis media with perforation of the ear drums. Her motor development was retarded as compared to that of the twin brother; she started to walk at the age of 2. When she was 13, she was hospitalized for acute glomerulonephritis, and a mastoid operation was performed. Menstruation started at the age of 15. At 24, she has developed into a friendly girl, who can do simple work and talks reasonably well. The I.Q. is 51. Her height is 157.5 cm with a U/LS index of 1.03. The head circumference is 55 cm, the palpebral fissures are oblique, and she has strabismus but shows neither epicanthus nor Brushfield’s spots. The ears are abnormal. She has large, irregular, protruding teeth in the upper jaw; the tongue is large and partly furrowed. Heart, lungs, and abdomen show no abnormalities. The breasts are well developed, pubic hair is sparse, there is no cutis marmorata. The fingers are short and broad, muscular tonus is rather high, reflexes are normal. The dermatoglyphic index (Ford Walker) is — 4.93. Radiological investigations gave a mean iliac angle of 71°, i.e. within the normal range. The Kaplow index is 97.

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© 1971 Springer Science+Business Media Dordrecht

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Sachs, E.S. (1971). Case Histories. In: Trisomy G/Normal Mosaicism. Springer, Dordrecht. https://doi.org/10.1007/978-94-010-2956-8_6

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  • DOI: https://doi.org/10.1007/978-94-010-2956-8_6

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-90-207-0311-5

  • Online ISBN: 978-94-010-2956-8

  • eBook Packages: Springer Book Archive

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