Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

Abstract

Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a very small number of children with this condition have been reported so far. Here we report on a series of 22 patients including 10 boys and 12 girls with acromicric dysplasia. Length was normal at birth and height fell progressively oV the centiles postnatally. The mean adult height was 130 cm (133 cm in males, 129 cm in females). The hands, feet, and limbs were short and OFC was normal. Intelligence was normal and mild dysmorphic features were noted. Other occasional features included well developed muscles, a hoarse voice, generalised joint limitation in some patients, frequent ear, tracheal, and respiratory complication, and spine abnormalities. Long term follow up showed that facial dysmorphism was less obvious in adults and that carpal tunnel syndrome was frequent in older patients. Apart from short metacarpals and phalanges, internal notch of the second metacarpal, external notch of the fifth metacarpal, and internal notch of the femoral heads, there were no major x ray abnormalities. No major complications, such as cardiac disease or major orthopaedic problems, occurred in the course of the disease. The condition appeared to be sporadic in 16 cases but the observation of vertical transmission in three families was consistent with an autosomal dominant mode of inheritance. (J Med Genet 2001;38:745-749)

Ocular findings in geleophysic dysplasia

“…However, patients with acromicric dysplasia usually present with normal birth length and then fall off the growth curves. 9 Our patient's height was at less than the third percentile on prenatal ultrasonic examination at 29 weeks and paralleled the growth curves thereafter.…”

Subglottic stenosis in short-statured children: A case for further investigation of airway symptoms in patients with skeletal dysplasias

“…In their series of 22 patients with acromicric dysplasia, Faivre et al [3] noted ear abnormalities in 6 of 20 patients, tracheal and respiratory problems in 7 of 22 patients, asthma in 10 of 20 patients, and an abnormally hoarse voice in 5 of 15 patients. In addition, they noted a common association with otitis media and tracheal infections [3].…”

“…Since its first description by Maroteaux et al [2] in 1986, very few cases of acromicric dysplasia have been described in the literature. The largest series of patients was reported by Faivre et al [3] in 2001 and consisted of 22 patients from several countries. While the description of patients in that review included the typical facial dysmorphism, short hands and feet, and characteristic radiographic findings, the authors also noted a common association with diseases of the ear, nose, and throat.…”

Chondrodysplasias and TGFβ signaling

“…38 However, the absence of ADAMTSL2 mutations in 19/33 GD patients supported genetic heterogeneity. 39 AD is transmitted with an autosomal dominant mode of inheritance and is characterized by facial features-round face, well-defined eyebrows, long eyelashes, a bulbous nose with anteverted nostrils, a long and prominent philtrum, thick lips with a small mouth, a hoarse voice, pseudo-muscular build and skeleton features (internal notch of the femoral head, internal notch of the second metacarpal and the external notch of the fifth metacarpal) 40,41 (Figure 2).…”