Search results for "short stature"
showing 6 items of 46 documents
Comparison of Postural Features and Muscle Strength between Children with Idiopathic Short Stature and Healthy Peers in Relation to Physical Exercise
2020
Previous research has reported that children with idiopathic short stature (ISS) showed functional and cognitive impairments. The purpose of this study was to compare muscle strength and body posture between children with ISS treated with growth hormone (GH) and healthy peers (healthy children, HC), and to analyze whether these parameters were affected by physical exercise. Eighteen children for the ISS group (mean age: 10.96 ± 1.68 years) and 26 children for the HC group (mean age: 10.19 ± 1.06 years) were recruited for the study. All participants performed the following assessments: handgrip and Sargent test for the muscle strength evaluation; baropodometric and stabilometric test for the…
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12
2011
A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical of AT such as frequent, severe infections of the respiratory tract. In contrast, she showed symptoms not generally related to AT, including microcephaly, profound motor and mental retardation, small hands and feet, severely and progressively reduced muscle tone with slackly protruding abdomen and undue drooling, excess fat on her upper arms, and severe oligoarthritis. A cranial…
Orthopedic-orthodontic treatment of the patient with Turner's syndrome: Review of the literature and case report.
2018
Aims Turner syndrome (TS) patients have phenotypical variable presentations and they are more susceptible to endocrine, auto-immune, and structural anomalies. Typical clinical characteristics are short stature and premature ovarian insufficiency. Patients with TS show a typical cranial-facial morphology with bi-maxillary bi-retrusion, high-arched palate, micrognathia, and class II malocclusion. Aim of our study is to present the orthopedic-orthodontic treatment approach of a young TS patient and data of stability after 7 years. Methods and results A careful analysis of anamnestic data was performed. After extraoral and intraoral examination, cephalometric measurements and examination of mod…
Clinical and ultrastructural findings in three patients with geleophysic dysplasia
1996
Geleophysic dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a “happy-looking” facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, the underlying cause of the condition is considered to be a storage defect in the metabolism of glycoproteins. The clinical course, with progressive worsening of the condition favors this hypothesis. We report on 3 further cases, in which light and electron microscopic studies of iliac crest biopsies and cultured skin fibroblasts provided add…
Chondrodysplasia punctata, tibia-metacarpal (MT) type.
1990
We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.
“Cola u’ Nanu”: an early nineteenth century case of disproportionate small stature
2022
This report considers Cola “u’ Nanu” (Cola the Dwarf) (Fig. 1) who was depicted in 1840 by the famous nineteenth century Sicilian painter Michele Panebianco (1806–1873).