Lethal Autosomal Recessive Arthrogryposis Multiplex Congenita with Whistling Face and Calcifications of the Nervous System

N. Illum; Edith Reske-Nielsen; F. Skovby; S. A. Askjær; Alice Bernsen

doi:10.1055/s-2008-1052443

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Neuropediatrics 1988; 19(4): 186-192
DOI: 10.1055/s-2008-1052443

Original articles

Lethal Autosomal Recessive Arthrogryposis Multiplex Congenita with Whistling Face and Calcifications of the Nervous System

N. Illum¹ , Edith Reske-Nielsen² , F. Skovby³ , S. A. Askjær⁴ , Alice Bernsen⁵

¹Department of Paediatrics, Rigshospitalet, DK-2100 Copenhagen, Denmark
²Department of Neuropathology, Aarhus University Hospital, Aarhus, Denmark
³Division of Clinical Genetics, Department of Paediatrics, Rigshospitalet, DK-2100 Copenhagen, Denmark
⁴Department of Pathology, Skive General Hospital, Skive, Denmark
⁵Department of Paediatrics, Viborg General Hospital, Viborg, Denmark

Further Information

Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Three children from a sibship of four had congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death. Extensive deposits of calcium compounds were found at postmortem examination of the nervous system and of skeletal muscle. The disorder in these sibs is presumably inherited as an autosomal recessive trait. The metabolic basis for the calcium deposition has yet to be discovered.

Key words

Arthrogryposis multiplex congenita - Calcifications of the nervous system - Autosomal recessive inheritance - Free-man-Sheldon syndrome - "Whistling face"

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