Orthopaedic aspects of fragile-X syndrome

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

Fragile-X syndrome is one of the most common inherited forms of mental retardation. An associated connective-tissue disorder involving elastin accounts for the most frequent musculoskeletal manifestations, which include severe flexible flat feet, excessive laxity of the joints, and scoliosis. At our institution, seventy-five (50 per cent) of the 150 male patients who had fragile-X syndrome had flat feet, eighty-five (57 per cent) had excessive laxity of the joints, and ten had scoliosis. Twenty-nine of the patients who had flat feet had been evaluated or treated, or both, by an orthopaedic surgeon before the diagnosis of fragile-X syndrome had been made. Only one of these patients had been referred for developmental and genetic evaluation, which suggests that the orthopaedic community is not familiar with this syndrome. The orthopaedist should consider the diagnosis of fragile-X syndrome in the evaluation of a mentally retarded boy or man who has a family history of mental retardation. The presence of flat feet and excessive laxity of the joints, associated with the characteristic facies, macro-orchidism, and behavior, justifies a referral for developmental and genetic evaluation. Early diagnosis is important for several reasons, including genetic counseling for the family, more efficacious medical treatment, and specialized education.

Original languageEnglish (US)
Pages (from-to)889-896
Number of pages8
JournalJournal of Bone and Joint Surgery - Series A
Volume72
Issue number6
StatePublished - 1990
Externally publishedYes

Fingerprint

Flatfoot
Fragile X Syndrome
Joint Instability
Orthopedics
Scoliosis
Intellectual Disability
Elastin
Mentally Disabled Persons
Genetic Counseling
Connective Tissue
Early Diagnosis
Referral and Consultation
Education
Orthopedic Surgeons

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Surgery

Cite this

Orthopaedic aspects of fragile-X syndrome. / Davids, Jon; Hagerman, Randi J; Eilert, R. E.

In: Journal of Bone and Joint Surgery - Series A, Vol. 72, No. 6, 1990, p. 889-896.

Research output: Contribution to journalArticle

@article{6ffb6acfd1374591877e41fbabe23eaf,
title = "Orthopaedic aspects of fragile-X syndrome",
abstract = "Fragile-X syndrome is one of the most common inherited forms of mental retardation. An associated connective-tissue disorder involving elastin accounts for the most frequent musculoskeletal manifestations, which include severe flexible flat feet, excessive laxity of the joints, and scoliosis. At our institution, seventy-five (50 per cent) of the 150 male patients who had fragile-X syndrome had flat feet, eighty-five (57 per cent) had excessive laxity of the joints, and ten had scoliosis. Twenty-nine of the patients who had flat feet had been evaluated or treated, or both, by an orthopaedic surgeon before the diagnosis of fragile-X syndrome had been made. Only one of these patients had been referred for developmental and genetic evaluation, which suggests that the orthopaedic community is not familiar with this syndrome. The orthopaedist should consider the diagnosis of fragile-X syndrome in the evaluation of a mentally retarded boy or man who has a family history of mental retardation. The presence of flat feet and excessive laxity of the joints, associated with the characteristic facies, macro-orchidism, and behavior, justifies a referral for developmental and genetic evaluation. Early diagnosis is important for several reasons, including genetic counseling for the family, more efficacious medical treatment, and specialized education.",
author = "Jon Davids and Hagerman, {Randi J} and Eilert, {R. E.}",
year = "1990",
language = "English (US)",
volume = "72",
pages = "889--896",
journal = "Journal of Bone and Joint Surgery - American Volume",
issn = "0021-9355",
publisher = "Journal of Bone and Joint Surgery Inc.",
number = "6",

}

TY - JOUR

T1 - Orthopaedic aspects of fragile-X syndrome

AU - Davids, Jon

AU - Hagerman, Randi J

AU - Eilert, R. E.

PY - 1990

Y1 - 1990

N2 - Fragile-X syndrome is one of the most common inherited forms of mental retardation. An associated connective-tissue disorder involving elastin accounts for the most frequent musculoskeletal manifestations, which include severe flexible flat feet, excessive laxity of the joints, and scoliosis. At our institution, seventy-five (50 per cent) of the 150 male patients who had fragile-X syndrome had flat feet, eighty-five (57 per cent) had excessive laxity of the joints, and ten had scoliosis. Twenty-nine of the patients who had flat feet had been evaluated or treated, or both, by an orthopaedic surgeon before the diagnosis of fragile-X syndrome had been made. Only one of these patients had been referred for developmental and genetic evaluation, which suggests that the orthopaedic community is not familiar with this syndrome. The orthopaedist should consider the diagnosis of fragile-X syndrome in the evaluation of a mentally retarded boy or man who has a family history of mental retardation. The presence of flat feet and excessive laxity of the joints, associated with the characteristic facies, macro-orchidism, and behavior, justifies a referral for developmental and genetic evaluation. Early diagnosis is important for several reasons, including genetic counseling for the family, more efficacious medical treatment, and specialized education.

AB - Fragile-X syndrome is one of the most common inherited forms of mental retardation. An associated connective-tissue disorder involving elastin accounts for the most frequent musculoskeletal manifestations, which include severe flexible flat feet, excessive laxity of the joints, and scoliosis. At our institution, seventy-five (50 per cent) of the 150 male patients who had fragile-X syndrome had flat feet, eighty-five (57 per cent) had excessive laxity of the joints, and ten had scoliosis. Twenty-nine of the patients who had flat feet had been evaluated or treated, or both, by an orthopaedic surgeon before the diagnosis of fragile-X syndrome had been made. Only one of these patients had been referred for developmental and genetic evaluation, which suggests that the orthopaedic community is not familiar with this syndrome. The orthopaedist should consider the diagnosis of fragile-X syndrome in the evaluation of a mentally retarded boy or man who has a family history of mental retardation. The presence of flat feet and excessive laxity of the joints, associated with the characteristic facies, macro-orchidism, and behavior, justifies a referral for developmental and genetic evaluation. Early diagnosis is important for several reasons, including genetic counseling for the family, more efficacious medical treatment, and specialized education.

UR - http://www.scopus.com/inward/record.url?scp=0025002486&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025002486&partnerID=8YFLogxK

M3 - Article

C2 - 2195034

AN - SCOPUS:0025002486

VL - 72

SP - 889

EP - 896

JO - Journal of Bone and Joint Surgery - American Volume

JF - Journal of Bone and Joint Surgery - American Volume

SN - 0021-9355

IS - 6

ER -