Menéndez GR, Orraca CM, Juan RJ, Friol SI, Rodríguez RM, Reyes PL

Language: Spanish
References: 11
Page: 48-53
PDF size: 792.24 Kb.

ABSTRACT

The spondylous-epi-metaphyseal dysplasias form a heterogeneous group of disorders comprising more than 20 distinct entities with different inheritance modes; all defined by a combination of vertebral, epiphyseal and metaphyseal abnormalities. These patients generally show a disproportionate low height. Diagnosis is based on skeletal manifestations and the extra-skeletal characteristics that appear along the progression of the disease. The Diggve-Melchior-Clausen syndrome is a spondylous-epi-metaphyseal dysplasia having a rare autosomic recessive form and another one, also recessive, linked to the X chromosome. The first one is due to the loss or mutation affecting the DYM gen function, mapped in 18q12-21.1 that encodes a product of 669 amino acids (Dymeclin) which function was previously unknown. These patients have short torso, low height, and a gaudy “barrel-like thorax” with protruded sternum, kyphoscoliosis, microcephaly and various distal deformities including genu valgum or varum, decreased mobility and a variable degree of mental retardation. Three affected member of two families in the Pinar del Río province are reported.

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