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Dyggve-Melchior-Clausen syndrome

Pronunciation: di-giv'e mel'ke-or klaws'en

Definition: a skeletal dysplasia that has some clinical resemblance to Morquio syndrome but without mucopolysacchariduria; characterized by mental retardation, short-trunk dwarfism, progressive sternal bulging, restricted joint mobility, waddling gait, and radiographic findings of irregular iliac crests and flattening of vertebral bodies; autosomal recessive inheritance. There is an X-linked form [MIM*304950].

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.