Long‐term outcome in desbuquois dysplasia: A follow‐up in four adult patients

Abstract

Desbuquois dysplasia is a rare chondrodysplasia characterized by short stature, joint laxity, and specific radiographic findings. We report the natural history of four patients (three boys and one girl) with Desbuquois dysplasia ages 16–22 years. The mean height in adulthood was 114 cm (−8.5 SD) with progressive deceleration of the growth curve from birth (−4 SD) to adulthood. Obesity was noted consistently and facial abnormalities were still present but less obvious than in childhood. Three of four patients had mental retardation of varying degree. Hyperlaxity was persistent but limited motion of various joints was also noted. Orthopedic complications included coxa vara or valga (3/4), scoliosis (3/4), marked lordosis (3/4), and ambulatory difficulties (3/4). Surgical treatment was necessary for all four patients, involving large joints, spine and hands. Other complications included acute open‐angle glaucoma secondary to a congenital malformation of the angle in one case. In addition to consistent radiological findings, elevated greater trochanter, generalized osteoporosis especially of the spine, scoliosis and/or lordosis, wide metaphyses, flat epiphyses, and coxa vara or valga were part of the natural history of the disorder. Our study emphasizes the care of older patients with Desbuquois dysplasia. © 2003 Wiley‐Liss, Inc.

Desbuquois syndrome in three sisters with significantly different lengths of survival

“…Hall, 1999 pointed out that one third of the patients died in early infancy. From the four reported patients with milder clinical symptoms and over the age of 16 years, late complications include extremely short stature, joint deformities requiring orthopedic surgery and often resulting in walking difficulties, as well as mental deficit [Faivre et al, 2004b].…”

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia

“…Desbuquois dysplasia is characterized by marked short stature of prenatal onset, joint laxity, round face, bulging eyes, midface hypoplasia, ''Swedish-key'' appearance of the proximal femora, hyperphalangy of the index finger, and advanced carpal and tarsal bone ossification (Faivre et al 2004). The phenotypic variations are diverse, and mild Desbuquois dysplasia without hyperphalangy has been reported (Nishimura et al 1999).…”

Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance

“…DBQD shares some of the clinical features, such as hand and foot changes and cleft palate, with Catel-Manzke syndrome. The main radiological features in DBQD are short long bones with metaphyseal splay, a ''swedish key'' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx [Desbuquois et al, 1966;Faivre et al, 2004] which were not present in this patient. Figure 5A,B demonstrate normal proximal femora and absence of platyspondyly.…”