title: Overcoming the barriers to diagnosis of Morquio A syndrome.
abstract: BACKGROUND
  Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.
  
  
  METHODS
  Experts in Asia Pacific reviewed medical records focusing on presenting signs and symptoms leading to a diagnosis of Morquio A syndrome.
  
  
  RESULTS
  Eighteen patients (77% female) had a mean (median; min, max) age of 77.1 (42.0; 0.0, 540.0) months at symptom onset, 78.9 (42.0; 4.5, 540.0) months at presentation and 113.8 (60.0; 7.0, 540.0) months at diagnosis. Orthopedic surgeons and pediatricians were most frequently consulted pre-diagnosis while clinical geneticists/metabolic specialists most frequently made the diagnosis. Delayed diagnoses were due to atypical symptoms for 5 patients (28%), while 4 patients (22%) experienced each of subtle symptoms, symptoms commonly associated with other diseases, or false-negative urine glycosaminoglycan analysis. Two patients (11%) each experienced overgrowth within the first year of life. Two patients with Morquio A syndrome (11%) were diagnosed with craniosynostosis and 1 (6%) for each of Legg-Calvé-Perthes disease, Leri-Weill syndrome, and pseudoachondroplasia. Early radiographic features of Morquio A syndrome led to more efficient diagnosis.
  
  
  CONCLUSIONS
  Increased awareness of clinical symptomology overlapping with Morquio A syndrome is essential. Clinicians encountering patients with certain skeletal dysplasia should consider Morquio A syndrome in their differential diagnosis. Atypical or subtle symptoms should not eliminate Morquio A syndrome from the differential diagnosis, especially for patients who may have non-classical phenotype of Morquio A syndrome.
authors.affiliation: Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Hawkesbury Rd & Hainsworth St, Westmead, Sydney, NSW, Australia. kaustuv.bhattacharya@health.nsw.gov.au.
authors.forename: Kaustuv
authors.initials: K
authors.lastname: Bhattacharya
authors.affiliation: Metabolic Unit, Princess Margaret Children's Hospital, Roberts Rd, Subiaco, WA, 6008, Australia. Shanti.Balasubramaniam@health.wa.gov.au.
authors.forename: Shanti
authors.initials: S
authors.lastname: Balasubramaniam
authors.affiliation: Prince Court Medical Center, 39 Jalan Kia Peng, 50450, Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, Malaysia. yewsing.choy@princecourt.com.
authors.forename: Yew Sing
authors.initials: YS
authors.lastname: Choy
authors.affiliation: SA Pathology (at Women's and Children's Hospital), 72 King William Rd, North Adelaide, SA, 5006, Australia. Michael.Fietz@health.sa.gov.au.
authors.forename: Michael
authors.initials: M
authors.lastname: Fietz
authors.affiliation: Prince of Wales Hospital, 30-32 Ngan Shing Street, Sha Tin, NT, Hong Kong. antonyccfu@gmail.com.
authors.forename: Antony
authors.initials: A
authors.lastname: Fu
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Irwon-Dong, Gangnam-Gu, Seoul, South Korea. Jindk@skku.edu.
authors.forename: Dong Kyu
authors.initials: DK
authors.lastname: Jin
authors.affiliation: Department of Radiology, Woorisoa Children's Hospital, Guro-gu, Seoul, 152-862, South Korea. kimoh5828@gmail.com.
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. kosuga-mo@ncchd.go.jp.
authors.forename: Motomichi
authors.initials: M
authors.lastname: Kosuga
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Irwon-Dong, Gangnam-Gu, Seoul, South Korea. younghee.kwun@samsung.com.
authors.forename: Young Hee
authors.initials: YH
authors.lastname: Kwun
authors.affiliation: Department of Metabolic Medicine, Royal Children's Hospital, Herston, QLD, 4006, Australia. Anita.Inwood@health.qld.gov.au.
authors.forename: Anita
authors.initials: A
authors.lastname: Inwood
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei City, 10449, Taiwan. lxc46199@ms37.hinet.net.
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.affiliation: Department of Metabolic Medicine, Royal Children's Hospital, Herston, QLD, 4006, Australia. Jim.McGill@health.qld.gov.au.
authors.forename: Jim
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authors.lastname: McGill
authors.affiliation: Children's Hospitals & Clinics of Minnesota, 2525 Chicago Ave, Minneapolis, MN, USA. Nancy.Mendelsohn@childrensmn.org.
authors.forename: Nancy J
authors.initials: NJ
authors.lastname: Mendelsohn
authors.affiliation: Department of Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. tora@nch.go.jp.
authors.forename: Torayuki
authors.initials: T
authors.lastname: Okuyama
authors.affiliation: National Heart Institute, 145 Jalan Tun Razak, 50586, Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, Malaysia. shasri@ijn.com.my.
authors.forename: Hasri
authors.initials: H
authors.lastname: Samion
authors.affiliation: Ipoh Specialist Hospital, Ipoh, Perak, Malaysia. adelinetanailin@gmail.com.
authors.forename: Adeline
authors.initials: A
authors.lastname: Tan
authors.affiliation: Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi, Abeno-ku, Osaka, 545-8585, Japan. akemi-chan@med.osaka-cu.ac.jp.
authors.forename: Akemi
authors.initials: A
authors.lastname: Tanaka
authors.affiliation: Queen Sirikit National Institute of Child Health, 420/8, Ratchawithi Road, Thung Phaya Thai, Khet Ratchathewi, Bangkok, 10400, Thailand. sivtk@hotmail.com.
authors.forename: Verasak
authors.initials: V
authors.lastname: Thamkunanon
authors.affiliation: Department of Paediatrics and Clinical Research Centre, Sibu Hospital, KM 5 1/2, Jalan Ulu Oya, 96000, Sibu, Sarawak, Malaysia. thtoh@yahoo.com.
authors.forename: Teck-Hock
authors.initials: TH
authors.lastname: Toh
authors.affiliation: Changhua Christian Hospital, 135 Nanxiao St, Changhua City, Changhua County, 526, Taiwan. 27730@cch.org.tw.
authors.forename: Albert D
authors.initials: AD
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei City, 10449, Taiwan. zsplin14@gmail.com.
authors.forename: Shuan-Pei
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mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001208:Asia / Q000453:epidemiology; D001315:Australia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008499:Medical Records / Q000592:standards; D008875:Middle Aged; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D010348:Patient Care Team / Q000592:standards