LPA Medical Advisory Board Publications

LPA Medical Advisory Board Publications

Description: Journal articles and patient literature authored by members of the Little People of America (LPA) Medical Advisory Board (MAB).

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
Source/Author: Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA.
Abstract
Discovery of the gene involved in metaphyseal chondrodysplasia, Schmid type.

Achondroplasia
Source/Author: Horton WA, Hall JG, Hecht JT
Abstract
Review of the molecular genetics of achondroplasia as well as the natural history and clinical issues of the condition.
Full article available by contacting [email protected]

Achondroplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of achondroplasia including: how it happens, its genetics, physical features, diagnosis, medical management, social aspects, physical accommodations,etc.

Achondroplasia
Source/Author: Richard M Pauli, MD, FACMG, GeneReviews
Medical Review
Detailed, numerous hyperlinks. Discusses: Diagnosis; Clinical Description; Differential Diagnosis; Management; Genetic Counseling; Molecular Genetics; Resources.

Achondroplasia chart for BMI ages 0-16 years
Source/Author: JE Hoover-Fong et al
Growth chart
Charts for calculating BMI in children with achondroplasia. This page has separate charts for boys and girls.

Achondroplasia chart for BMI ages 0-16 with superimposed reference curves for children of average stature
Source/Author: JE Hoover-Fong et al
Growth chart
Charts for calculating BMI in children with achondroplasia and comparing them to BMIs for children of average stature. This page has separate charts for boys and girls.

Achondroplasia - Foramen Magnum chart
Source/Author: Hecht et al
Growth Chart
Chart showing the growth of the foramen magnum by age. With lines for the foramen magnum in average-statured and in children with achondroplasia.

Achondroplasia - Female Height chart
Source/Author: WA Horton et al
Growth Chart
Growth chart for girls with achondroplasia. Height measurements need to be converted to centimeters.

Achondroplasia - Male Height chart
Source/Author: WA Horton et al
Growth Chart
Growth chart (height) for boys with achondroplasia. Measurements must be converted to centimeters.

Achondroplasia - Male Head Circumference chart
Source/Author: Horton et al
Growth Chart
Head circumference for males with achondroplasia compared to normal curves (dashed lines)

Achondroplasia - Female Head Circumference chart
Source/Author: WA Horton et al
Growth Chart
Head circumference growth chart for girls with achondroplasia. Measurements must be made in/converted to centimeters.

Achondroplasia: unexpected familial recurrence.
Source/Author: Reiser CA, Pauli RM, Hall JG
Abstract
Discussion of sporadic occurrence of achondroplasia more than 1 time within families.
Full text medical article available by contacting [email protected]

Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height.
Source/Author: Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI.
Abstract
BMI curves created for children with achondroplasia, ages 0-16.
Full text medical article available by contacting [email protected]

Apnea and sudden unexpected death in infants with achondroplasia.
Source/Author: Pauli RM, Scott CI, Wassman ER Jr, Gilbert EF, Leavitt LA, Ver Hoeve J, Hall JG, Partington MW, Jones KL, Sommer A, et al.
Abstract
Discussion of the cause(s) of sudden infant death in achondroplasia.
Full text medical article available by contacting [email protected]

Best Practice Guidelines regarding Prenatal Evaluation and Delivery of Patients with Skeletal Dysplasia
Source/Author: Skeletal Dysplasia Management Consortium
Journal Abstract
Abstract of article regarding recommendations for caring for pregnant women with skeletal dysplasias and unborn children that are identified as possibly having a skeletal dysplasia.

Bone dysplasias in man: molecular insights.
Source/Author: Francomano CA, McIntosh I, Wilkin DJ. Curr Opin Genet Dev. 1996 Jun;6(3):301-8.
Abstract
Overview of the (then understood) molecular genetics of skeletal dysplasias.

Breathing Problems Among Little People: When To Be Concerned
Source/Author: Cheryl S. Reid, M.D.
Support Group
Discussion of the physiology and mechanism of respiration/breathing and complications that can occur in people with skeletal dysplasias.

Campomelic dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of achondroplasia including: how it happens, its genetics, physical features, diagnosis, medical management, etc.

Cartilage Hair Hypoplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of these conditions including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis, etc

Cervical Spinal Stenosis in Metatropic Dysplasia.
Source/Author: Leet, Arabella I. MD; Sampath, Jayanth S. FRCSEd, FRCS (Tr&Orth), MSc; Scott, Charles I. Jr MD; MacKenzie, William G. MD
Abstract
Full text article can be obtained by contacting [email protected]

Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression.
Source/Author: D L Rimoin
Full text
Opinion on when foramen magnum (cervicomedullary) decompression should be done in patients with achondroplasia.

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
Source/Author: Makitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG.
Abstract
Discussion of the form of MED that has mutations in the matrilin (MATN)3 gene.

Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates.
Source/Author: Hecht JT, Thompson NM, Weir T, Patchell L, Horton WA.; Am J Med Genet. 1991 Nov 1;41(2):208-11.
Abstract
Relationship between respiratory complications and mental capacity in achondroplasia

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
Source/Author: Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL. Eur J Radiol. 1992 Jan-Feb;14(1):1-10.
Abstract
Discussion of the skeletal dysplasias that are caused by genetic mutations in types I and II collagen.

COMO TRATAR AL RECIN NACIDO Y AL LACTANTE CON ACONDROPLASIA
Source/Author: Cheryl S. Reid, M.D.
Support Group
In SPANISH.
Recommendations for how to hold a baby with achondroplasia.

COMP mutations, chondrocyte function and cartilage matrix.
Source/Author: Hecht JT, Hayes E, Haynes R, Cole WG.
Abstract
Overview of the conditions - MED and pseudoachondroplasia - that are caused by mutations in the COMP gene.

Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia.
Source/Author: John Aryanpur, M.D., Orest Hurko, M.D., Clair Francomano, M.D., Henry Wang, M.D. and Benjamin Carson, M.D.
Abstract
Discussion of the surgical treatment of foramen magnum stenosis (also known as cervicomedullary compression).

Diastrofia Displasia (Booklet)
Source/Author: Mary Carten and Vita Gagne with Dr. Charles Scott, Dr. Cheryl Reid and Dr. Monica Carten
Support Group
IN SPANISH.
Booklet on diastrophic dysplasia for patients and families. Written in lay terms. Multiple pictures of people with diastrophic dysplasia. Discusses clinical features, mobility and development, anesthesia, pregnancy and resources.

Diastrophic Dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis, etc.

Diastrophic Dysplasia Booklet
Source/Author: Mary Carten and Vita Gagne with Dr. Charles Scott, Dr. Cheryl Reid and Dr. Monica Carten
Support Group
Booklet on diastrophic dysplasia for patients and families. Written in lay terms. Multiple pictures of people with diastrophic dysplasia. Discusses clinical features, mobility and development, anesthesia, pregnancy and resources.

Diastrophic dysplasia - Male & Female Height
Source/Author: WM Horton et al
Growth Chart
Growth-for-age chart for males and females with diastrophic dysplasia. Height needs to be converted to centimeters.

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
Source/Author: Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.; Am J Med Genet. 2001 Nov 22;104(2):140-6.
Abstract
Case report of a child with both pseudoachondroplasia and spondyloepiphyseal dysplasia. Discussion of molecular genetics and clinical outcome of child.

Double heterozygosity in bone growth disorders: four new observations and review.
Source/Author: Flynn MA, Pauli RM.
Abstract
Reviews the following cases of double heterozygosity: achondroplasia & spondyloepiphyseal dysplasia congenita, achondroplasia & pseudoachondroplasia, achondroplasia & osteogenesis imperfecta type I, achondroplasia & hypochondroplasia, pseudoachondroplasia & spondyloepiphyseal dysplasia congenita, Leri-Weill Dyschondrosteosis & hypochondroplasia/achondroplasia, osteogenesis imperfecta & pseudoachondroplasia.

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.
Source/Author: Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL.
Abstract
Discusses how MRI in neutral positions may not show cervicomedullary compression that occurs with the head in flexion and/or extension.

Ellis-van Creveld
Source/Author: Charles Scott & the Nemours Skeletal Dysplasia team
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.

Extended limb-lengthening: LPA Medical Advisory Board Statement
Source/Author: LPA Medical Advisory Board
Support Group
Discussion of ELL, its complications and recommended ways to explore and proceed with ELL, if an individual should feel that ELL is an appropriate choice for him/her.

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.
Source/Author: Krakow D, Alanay Yasemin, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL
Full text medical
Medical journal article discussing a standard approach to ultrasound on a fetus suspected to have a skeletal dysplasia.

Guia para clinicos en las prestacion de cuidado pediatricos: Revisiones Medicas en Ninos con Acondroplasia (Health Supervision Guidelines for Achondroplasia: SPANISH)
Source/Author: AMERICAN ACADEMY OF PEDIATRICS, Committee on Genetics
Medical Review
IN SPANISH.
Translation of the article "Health Supervision Guidelines for Children with Achondroplasia." Growth charts and tables are at the end of the article.

Handling The Newborn And Young Infant With Achondroplasia
Source/Author: Cheryl S. Reid, M.D., FAAP Member, Medical Advisory Board, LPA, Inc.
Support Group
Discusses: Sitting up; Head/Neck support; Products to avoid; Breathing.

Health Supervision for Children With Achondroplasia
Source/Author: AMERICAN ACADEMY OF PEDIATRICS, Committee on Genetics
Medical Review
Policy Statement. Set of guidelines is designed to assist the pediatrician. Discusses: Diagnosis and overview of Achondroplasia. The Prenatal Visit. Health Supervision for Newborns; Health Supervision in Infancy; Health Supervision in Early Childhood; Health Supervision in Late Childhood; Health Supervision Adolescence/Early Adulthood.
NEWLY UPDATED 09/2005

Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension
Source/Author: Steinbok P, Hall J, Flodmark O.
Abstract
Discussion of a possible mechanism for hydrocephalus in achondroplasia. Full text article available by contacting [email protected]

Hypochondroplasia
Source/Author: Michael B Bober, MD, PhD, Gary A Bellus, MD, PhD, Sarah M Nikkel, MD, and George E Tiller, MD, PhD.: GeneReviews
Medical Review
Detailed discussion of the condition in medical terminology. Includes diagnosis, clinical description, differential diagnosis, management, genetic counseling, molecular genetics, resources

Hypochondroplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.

Information update on Achondroplasia.
Source/Author: Hall JG. Pediatrics. 1995 Apr;95(4):620
Abstract

Kniest dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, etc.

Laminectomies and achondroplasia: does body mass index influence surgical outcomes?
Source/Author: Ain MC, Chang TL, Schkrohowsky JG.
Full text
Article that shows that patients with higher BMIs do not have greater risk for complication over those with lower BMIs.

Living with achondroplasia: quality of life evaluation following cervico-medullary decompression.
Source/Author: Ho NC, Guarnieri M, Brant LJ, Park SS, Sun B, North M, Francomano CA, Carson BS
Abstract
Qualitative study on how this surgery ends up affecting quality of life in achondroplasia.

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.
Source/Author: Lachman RS, Krakow D, Cohn DH, Rimoin DL.
Abstract
Overview of the various genes that cause MED.

Medical complications of achondroplasia: a multicentre patient review.
Source/Author: Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr.; J Med Genet. 1998 Sep;35(9):705-12.
Abstract

Medical Needs Letter for LPA Members
Source/Author: LPA Medical Advisory Board physicians
Support Group
Letter to be given to insurance companies to support the need for patients with dwarfism to be cared for by specialists who have experience with dwarfism and indicating that this may require them to go out of network or out of state to receive the necessary services.

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.
Source/Author: Lachman RS, Rimoin DL, Spranger J.
Abstract
Overview of this condition.

Metatropic dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis, etc.

Molecular genetic basis of the human chondrodysplasias
Source/Author: Horton WA. Endocrinol Metab Clin North Am. 1996 Sep;25(3):683-97
Abstract
Review and update on the genetic mechanisms of the skeletal dysplasias.

Morquio syndrome
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis, etc.

Mortality in achondroplasia study: a 42-year follow-up.
Source/Author: Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT.
Full text
Article noting an increased mortality rate for individuals with achondroplasia in infancy and in adulthood.

Mortality in achondroplasia.
Source/Author: Hecht JT, Francomano CA, Horton WA, Annegers JF
Full text
Evidence of increased mortality in people with achondroplasia over the general population.

Mosaicism in pseudoachondroplasia.
Source/Author: Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT. Full text
Article on the alternate inheritance pattern of pseudoachondroplasia.

Motor milestones in children with diastrophic dysplasia.
Source/Author: Crockett MM, Carten MF, Hurko O, Sponseller PD.; J Pediatr Orthop. 2000 Jul-Aug;20(4):437-41
Abstract
Provides average ages for motor milestone attainment for children with diastrophic dysplasia

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
Source/Author: Varanavicharn, Lachman RS, Rimoin DL
Abstract
Medical journal article on a specific radiographic finding in multiple epiphyseal dysplasia and pseudoachondroplasia.
Full text article available by contacting [email protected]

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Source/Author: Krakow D, Vriens J, Camacho N, Luong d, Deixler H, Funari T, Bacino CA, Irons MB, Holm IA, Sadler B, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
Abstract
Medical journal article on the discovery of the gene in which mutations cause metatropic dysplasia as well as 2 other skeletal dysplasias.

Multiple Epiphyseal Dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.

Multiple Epiphyseal Dysplasia, Dominant
Source/Author: Michael D Briggs, PhD, Michael J Wright, MD, MRCP, Geert R Mortier, MD, PhD; GeneReviews
Medical Review
Detailed discussion of the condition in medical terminology. Includes diagnosis, clinical description, differential diagnosis, management, genetic counseling, molecular genetics, resources

Natural History: Achondroplasia
Source/Author: Richard M Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with achondroplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Natural History: Campomelic Dysplasia
Source/Author: Richard M Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with campomelic dysplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Natural History: Diastrophic Dysplasia
Source/Author: Richard M. Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with diastrophic dysplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Natural History: Ellis-van Creveld
Source/Author: Richard M. Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with EvC and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Natural History: Hypochondroplasia
Source/Author: Richard M. Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with hypochondroplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Original documents can be ordered from the Midwest Regional Bone Dysplasia Clinic.

Natural History: Kniest dysplasia
Source/Author: Richard M. Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with Kniest dysplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Original documents can be ordered from the Midwest Regional Bone Dysplasia Clinic.

Natural History: Morquio
Source/Author: Richard M Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with pseudoachondroplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Natural History: Multiple Epiphyseal Dysplasia
Source/Author: Richard M Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with pseudoachondroplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Natural History: Pseudoachondroplasia
Source/Author: Richard M. Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with pseudoachondroplasia and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Natural History: Spondyloepiphyseal Dysplasia Congenita
Source/Author: Richard M. Pauli, MD, PhD
Medical Review
Review of the various medical complications that can occur with spondyloepiphyseal dysplasia, congenita and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.

Natural history of rhizomelic chondrodysplasia punctata.
Source/Author: White AL1, Modaff P, Holland-Morris F, Pauli RM. Am J Med Genet A. 2003 May 1;118A(4):332-42.
Abstract
Overview of the classification, genetics and management of the skeletal dysplasias.

Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia.
Source/Author: Thompson NM, Hecht JT, Bohan TP, Kramer LA, Davidson K, Brandt ME, Fletcher JM.; Am J Med Genet. 1999 Apr 16;88(2):145-53.
Abstract
Cognitive skills of children with achondroplasia in relation to their neurological complications.

Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective.
Source/Author: Lachman RS. Am J Med Genet. 1997 Mar 3;69(1):33-43.
Abstract
A review of the neurologic manifestations of the skeletal dysplasias focusing on achondroplasia, type II collagenopathies and craniotubular and sclerosing bone dysplasias.

Neurologic morbidity associated with achondroplasia.
Source/Author: Hecht JT, Butler IJ. J Child Neurol. 1990 Apr;5(2):84-97.
Abstract
Discussion of the neurological complications that can occur in achondroplasia due to skeletal abnormalities of the vertebrae and the base of the skull.

Neurological Considerations in Short Stature
Source/Author: Orest Hurko, MD, LPA Medical Advisory Board
Support Group
Article written in lay terms about the most common neurological problems for individuals of short stature.

Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations.
Source/Author: Sisk EA, Heatley DG, Borowski BJ, Leverson GE, Pauli RM.; Otolaryngol Head Neck Surg. 1999 Feb;120(2):248-54.
Abstract
Treatment of sleep apnea in achondroplasia with surgical removal of tonsils and/or adenoids: risks and benefits.
Full text available by contacting [email protected]

Patient Guide to Achondroplasia
Source/Author: Paul Sponseller, M.D., Michael Ain, M.D., Nancy Miller, M.D, Michael Bahk, MSIV, Dept. of Orthopedic Surgery, Johns Hopkins University
Web-based (lay)
Overview. Discusses: What is achondroplasia? What causes achondroplasia? What are the signs and symptoms of achondroplasia? What are the different types of achondroplasia? What is the treatment of achondroplasia? Should my child see a doctor regularly? How will be child do in the long run with achondroplasia?

Patient Guide to Achondroplasia Genu Varum
Source/Author: Paul Sponseller, Michael Ain, Nancy Miller, Michael Bank. Dept of Orthopedic Surgery, Johns Hopkins.
Web-based (lay)
Detailed article in lay terms about genu varum (leg bowing) in achondroplasia.

Patient Guide to Achondroplasia Kyphosis
Source/Author: Paul Sponseller, Michael Ain, Nancy Miller, Michael Bank. Dept of Orthopedic Surgery, Johns Hopkins.
Web-based (lay)
Detailed article in lay terms about kyphosis in achondroplasia

Patient Guide to Spondyloepiphyseal Dysplasia Congenita
Source/Author: Paul Sponseller, Michael Ain, Nancy Miller, Michael Bank. Dept of Orthopedic Surgery, Johns Hopkins.
Web-based (lay)
Article in lay terms on the cause, incidence, diagnosis and natural history of SEDc.

Pedicle and spinal canal parameters of the lower thoracic and lumbar vertebrae in the achondroplast population.
Source/Author: Srikumaran U, Woodard EJ, Leet AI, Rigamonti, D, Sponseller PD, Ain MC.
Abstract
Medical journal article about the spine in achondroplasia.
Full text article available by contacting [email protected]

Point/Counterpoint: Should Achondroplastic Dwarfs Undergo Leg Lengthening?
Source/Author: Dror Paley, M.D., Associate Professor of Orthopedic Surgery, University of Maryland Medical Center, Baltimore and Charles I. Scott Jr., M.D., Chief, Division of Medical Genetics, Alfred duPont Institute Wilmington, Del.; Medical Advisory Board
Web-based (lay)
Arguments for and against extensive limb lengthening in individuals with achondroplasia.

Postlaminectomy kyphosis in the skeletally immature achondroplast.
Source/Author: Ain MC, Shirley ED, Pirouzmanesh A, Hariri A, Carson BS.
Abstract
Article on the risk of the development of kyphosis after laminectomies in young patients with achondroplasia. Full text article available by contacting [email protected]

Prenatal diagnosis of genetic osteochondrodysplasias.
Source/Author: Kelly TE, Hall JG, Horton W, Scott CI.
Reference only.
Full text article available by contacting [email protected]

PREVENTION OF FIXED, ANGULAR KYPHOSIS in Achondroplasia for Physicians, Orthotists and other Health Professionals.
Source/Author: Richard M Pauli, Peggy Modaff, Catherine A Reiser
Resource
Paper written in medical terms discussing which interventions can help to prevent a fixed kyphosis in children with achondroplasia.

Prevention of fixed, angular kyphosis in achondroplasia.
Source/Author: Pauli RM, Breed A, Horton VK, Glinski LP, Reiser CA.
Absract
Article on ways for parents to work with children with achondroplasia in order to prevent fixed kyphosis which can often require surgical intervention.
Full article available by contacting [email protected].

Primordial Dwarfism
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of primordial dwarfism including: how it happens, its genetics, physical features, diagnosis, medical management, social aspects, physical accommodations,etc.

PrimordialDwarfism.com
Source/Author: Parents of Children with Primordial Dwarfism, in conjunction with Drs. Charles Scott and Judy Hall
Web-based (lay)
A site dedicated to educating and supporting families affected by Primordial Dwarfism. Medical and educational information as well as contacts to families.

Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia
Source/Author: Pauli RM, Horton VK, Glinski LP, Reiser CA.
Full Text
Discussion of how infants with achondroplasia should be screened for cervico-medullary junction compression.

Pseudoachondroplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
Source/Author: Unger S, Hecht JT. Am J Med Genet. 2001 Winter;106(4):244-50.
Abstract
Discussion of the genetic etiology of MED and pseudoachondroplasia.

Pseudoachondroplasia Growth Chart
Source/Author: WA Horton et al
Growth chart
Height for age chart for children with pseudoachondroplasia. Heights need to be converted into centimeters.

Questions to ask your anesthesiologist
Source/Author: Cheryl Reid
Support Group
Article from LPA today written by MAB member.

Rates of perioperative complications associated with laminectomies in patients with achondroplasia
Source/Author: Ain MC, Chang TL, Schkrohowsky JG, Carlisle ES, Hodor M, Rigamonti D.
Abstract
Article discussing the risks of laminectomy surgeries in patients with achondroplasia.

Recent milestones in achondroplasia research
Source/Author: William A. Horton
Full text
Discussion of advances in the molecular understanding of achondroplasia and how this may contribute to potential treatments in the future.

Respiratory complications of achondroplasia.
Source/Author: Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, Brown DL.; J Pediatr. 1983 Apr;102(4):534-41.
Abstract

Respiratory Studies in Children with Achondroplasia
Source/Author: Dr. Cheryl S. Reid, M.D., FAAP Member, Medical Advisory Board, LPA, Inc.
Support Group
Article for LPA Today written by LPA MAB member discussing studies that have helped us better understand the respiratory problems in achondroplasia.

Scott sign: a clinical measure of ligamentous laxity in achondroplastic infants.
Source/Author: Bober M, Johnson C, Nicholson L, Scott C Jr.
Reference
Medical journal article discussing a specific way to assess laxity (hypermobility) in achondroplasia infants.
Full text article available by contacting [email protected]

Skeletal Dysplasia Definitions
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Web-based (lay)
Glossary of medical terminology used in describing the skeletal dysplasias and their medical complications.

Special Considerations for Children with Achondroplasia in a Preschool
Source/Author: Bone Dysplasia Clinic, Madison, Wisconsin
Resource
Document for parents on how to work with their child's preschool to create an age appropriate and safe environment.

Special Considerations for Children with Achondroplasia in an Elementary School Setting
Source/Author: Bone Dysplasia Clinic, Madison, Wisconsin
ResourceDocument for parents on how to work with their child's preschool to provide the appropriate accommodations and a safe, age-appropriate environment.

Special Considerations for Children with Achondroplasia in Junior and Senior High School
Source/Author: Bone Dysplasia Clinic, Madison, Wisconsin
Resource
Document for parents on how to work with their child's preschool to provide the appropriate accommodations and a safe, age-appropriate environment.

Spondylo-epiphyseal dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.

Thanatophoric dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of this condition including: how it happens, its genetics, physical features, diagnosis, medical management, prognosis,etc.

The Achondroplasia Gene
Source/Author: Dr. Judith Hall; LPA Parent Handbook
Resource
Article in lay terms about the discovery of the achondroplasia gene and what it means for people with achondroplasia.

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.
Source/Author: Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT
Abstract
Medical journal article on trying to determine the prevalence of achondroplasia and thanatophoric dysplasia (how often babies are born with these conditions in different parts of the U.S.)

To Celebrate: Understanding Developmental Differences in Young Children with Achondroplasia
Part One
Part Two
Source/Author: Richard M. Pauli, MD, PhD, Peggy Modaff, MS, Eric Fowler, MS, Catherine Reiser, MS
Resource
Booklet created by the Midwest Regional Bone Dysplasia Clinic for families with children with achondroplasia. Illustrates the many ways in which a achondroplastic child's development may vary from that of most average statured children.

Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias.
Source/Author: Krakow D, Williams J 3rd, Poehl M, Rimoin DL, Platt LD; Ultrasound Obstet Gynecol. 2003 May;21(5):467-72
Abstract
The utilization of two dimensional and three dimensional ultrasound to detect skeletal dysplasias prenatally.

Weight for age charts for children with achondroplasia.
Source/Author: Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI.
Full text
Article on age-specific weights in achondroplasia. Male and Female specific weight for age charts included.

X-Linked Spondyloepiphyseal Dysplasia Tarda
Source/Author: George E Tiller, MD, PhD, Vickie L Hannig, MS; GeneReviews
Medical Review
Detailed discussion of the condition in medical terminology. Includes diagnosis, clinical description, differential diagnosis, management, genetic counseling, molecular genetics, resources