Resources: Medical articles, websites and books for patients of the Greenberg Center, their families and healthcare providers
Medical Articles of Interest
- Oral health-related quality of life in patients with cleidocranial dysplasia: Impact of malocclusion traits and treatment modality.
- Autosomal Dominant TRPV4-Related Disorders. (updated)
- Qualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments.
- Body composition, anthropometry, and resting energy expenditure in adults with achondroplasia: a pilot study to determine best practices.
- Growth Standards for Children With Smith-Magenis Syndrome (SMS).
- Mitral Valve Repair in a Patient With Achondroplasia.
- International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.
- Considerations for Anthropometry Specific to People with Disproportionate Short Stature.
- Evolution of sleep disordered breathing in infants with achondroplasia.
- Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.
- International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.
- Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.
- Oral Infigratinib Therapy in Children with Achondroplasia
- Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
- Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia
- Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US
- Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers
- Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States
- Otolaryngology Utilization in Patients with Achondroplasia: Results from the CLARITY Study
- Current state of the art in treatment of Mendelian disease: Skeletal dysplasias
- Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
- CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus
- Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
- Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
- Molecular testing strategies in the evaluation of fetal skeletal dysplasia
- Best practice guidelines for management of spinal disorders in skeletal dysplasia
- Health Supervision for People With Achondroplasia
- Blood pressure in adults with short stature skeletal dysplasias
- Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene
- C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia
- Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders
- Multicenter study of mortality in achondroplasia
- Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia
- Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"
- Best practices in peri-operative management of patients with skeletal dysplasias
- Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery
- A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data
- Skeletal Dysplasias: Growing Therapy for Growing Bones
- Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias
- The society for craniofacial genetics and developmental biology 38th annual meeting
- Overview: referrals for genetic evaluation from child psychiatrists
- Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?"
- Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy
- Autosomal Dominant TRPV4 Disorders
- Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy
- Body mass index (BMI): the case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias
- Cross-sectional assessment of pain and physical function in skeletal dysplasia patients
- Hearing loss in skeletal dysplasia patients
- Otolaryngologic manifestations of skeletal dysplasias in children
- Hearing screening in children with skeletal dysplasia
- Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function
- Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height
- Weight for age charts for children with achondroplasia
- Nail patella syndrome revisited: 50 years after linkage
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