Some neutrophil functions (superoxide anion production, bactericidal activity and chemotaxis) have been examined in four children with Chondrodystrophia Calcificans Congenita. Superoxide anion production and bactericidal activity were in the normal range, but a defect in cellular chemotaxis has been proved. This finding account for predisposition to infection which is frequently present in these patients, and may include this disease among those syndromes in which a deficiency of the immune system is associated with growth failure.
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Introduction: Vosoritide is the first approved treatment for achondroplasia, a rare genetic disorder that results in disproportionate short stature. In clinical trials, vosoritide has shown a positive safety profile and increased height in children with achondroplasia. This paper shares the organizational structure, initiation, follow-up protocol, and findings of a vosoritide early access program (EAP) conducted in France.
View Article and Find Full Text PDFFrontal Plane Knee Kinematics and Kinetics During Gait in Children and Youth with Achondroplasia-Correspondence with Static X-Ray Images and Relevance to Symptoms.
Children (Basel)
January 2025
Specialist Centre for Paediatric Orthopaedics, Neuroorthopaedics and Deformity Reconstruction, Schön Clinic Vogtareuth, 83569 Vogtareuth, Germany.
: Frontal knee malalignments are hallmarks of Achondroplasia (ACH), along with disproportional short stature. Typically, X-rays are used to assess them, but 3D gait analysis (3DGA) may additionally be used to evaluate dynamic knee function. The research questions were as follows: (1) What is the relationship between X-rays and 3DGA in ACH? (2) Do children with ACH have abnormal frontal knee kinematics and kinetics? (3) Are there aspects of 3DGA that relate to knee symptoms? : A total of 62 knees of 31 children with ACH (age: 11.
View Article and Find Full Text PDFEvolution of sleep disordered breathing in infants with achondroplasia.
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January 2025
McGovern Medical School University of Texas Health, Houston, TX, USA.
Purpose: Children with achondroplasia (ACH) are at risk for sudden death in infancy due to sleep disordered breathing (SDB) and foramen magnum stenosis (FMS). Sleep studies and neuroimaging are performed in infants with ACH, but interpretation of infant studies is challenging. We sought to describe baseline data on polysomnography (PSG) indices in infants with achondroplasia as well as effects of age and surgery on these parameters.
View Article and Find Full Text PDFBipedal static postural stability in children with achondroplasia compared to typically developed children in the age range of 9-12 years - A pilot study.
Gait Posture
January 2025
Sports Engineering / Movement Science Departement, Faculty for Human Sciences, Otto-von-Guericke University, Magdeburg, Germany.
Background: Postural stability is a key factor in maintaining an upright standing position. Children with average height (CAH) have elaborate general postural stability up to the age of seven years. Children with achondroplasia (ACH) face body disproportions like shorter arms and legs, bowing of the legs as well as hyperlordosis and hypokyphosis in the spine.
View Article and Find Full Text PDFApproach to the Patient with Achondroplasia - New Considerations for Diagnosis, Management and Treatment.
J Clin Endocrinol Metab
January 2025
Division of Orthogenetics, Department of Pediatrics, Nemours Children's Hospital, Delaware, 1600 Rockland Road, Wilmington, DE, 19803, USA.
Achondroplasia is the most common disproportionate short-stature skeletal dysplasia. Features associated with achondroplasia are rhizomelia, macrocephaly, midface hypoplasia, and typical cognition. Potential medical complications include foramen magnum stenosis, hydrocephalus, middle ear dysfunction, obstructive and central sleep apnea, spinal stenosis and genu varum.
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