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Resources: Medical articles, website and books for patients of the Greenberg Center, their families and healthcare providers
Medical Articles of Interest
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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