Additional Resources

To Read More About Larsen Syndrome 

Note:  The following information has been copied from the last pages of
the Larsen Syndrome entry on the National Organization of Rare Disorders website, but has been presented in a reorganized manner.

Hennekam RCM, Allanson J, Krantz I, eds. Gorlin’s Syndromes of the Head and Neck. 5th ed. New York, NY: Oxford University Press; 2010:984-987.

Lachman RS. Taybi and Lachman, Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasia. 5th ed. Philadelphia, PA: Mosby Elsevier Co.; 2007:450-452.

Jones KL. Smith, Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA : W. B. Saunders Co.; 2006:498-499.


Please consult your local hospital’s medical library for assistance in obtaining copies of articles listed.

Cartault F, Munier P, JaMLcquemont , et al.Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. Eur J Hum Genet. 2015 23:49-53.

Mei H, He R, Liu K, et al. Presumed Larsen syndrome in a child: a case with a 12-year follow-up. J Pediatr Orthop B. 2015 24:268-273.

Unger S, Lausch E., Rossi A., et al. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am JMed Genet A. 2010;152A:2543-2

Huber C, Oules B, Bertoli M et al: Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet 2009; 85: 706–710.

Winer N, Kyndt F, Paumier A, David A, Isidor B, Quentin M, Jouitteau B, Sanyas P, Philippe HJ, Hernandez A, Krakow D, Le Caignec C. Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene. Prenat Diagn. 2009;29:172-4.

Bicknell LS, Farrington-Rock C, Shafeghati Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007;44:89-98.

Zhang, Herring JA, Swaney SS, et al. Mutations responsible for Larsen syndrome cluster in the FLNB protein. J Med Genet. 2006;43:e24.

Krakow D, Robertson SP, King LM, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004;36:405-410.

Banks JT, Wellons JC, Tubbs RS, et al. Cervical spine involvement in Larsen’s syndrome: a case illustration. Pediatrics. 2003;111:199-201.

Critchley LA, Chan K. General anesthesia in a child with Larsen Syndrome. Anaesth Intensive Care. 2003;31: 217-20.

Debeer P, De Borre LO, De Smet L, Fryns JP. Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome. Genet Couns. 2003;14:95-100.

Malik P, Choudhry DK. Larsen syndrome and its anaesthsia considerations. Paediatr Anaesth. 2002;12:632-6.

Becker R, Wegner RD, Kunze J, et al. Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. Clin Genet. 2000;57:148-50.

Petrella R, Rabinowitz JF, Steinmann B, Hirschhorn K. Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mutation. Am J Med Genet. 1993;47:187-197.

Rock MJ, Green CG, Pauli RM, Peters ME. Tracheomalacia and bronchomalacia associated with Larsen syndrome. Pediatr Pulmonol. 1988;5:55-59.

Larsen LJ, Schottstaedt Er, Bost FC. Multiple congenital dislocations associated with characteristic facial abnormality. J Pediat. 1950. 37:574-581.


  • The International Skeletal Dysplasia Registry (ISDR) at UCLA evaluates genetic skeletal surveys and clinical features in affected individuals, as well as collecting samples for continuing research on affected individuals and members of their families. The ISDR web site provides information for affected individuals, their families, and healthcare professionals.
    For information, contact:

    International Skeletal Dysplasia Registry
    David Geffen School of Medicine at UCLA
    Los Angeles, CA

    Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

    For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

    Toll Free: (800) 411-1222
    TTY: (866) 411-1010

    For information about clinical trials sponsored by private sources, contact:

    For information about clinical trials conducted in Europe, contact:

    Information from Organizations Regarding Disorders Associated with LS

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675 USA
    Phone: (301) 495-4484
    Toll-free: (877) 226-4267

Children’s Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240 USA
Phone: (214) 570-9099
Toll-free: (800) 535-3643

Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Phone: (616) 329-1335

FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Phone: (423) 266-1632
Toll-free: (800) 332-2373

MAGIC Foundation
6645 W. North Avenue
Oak Park, IL 60302
Phone: (708) 383-0808
Toll-free: (800) 362-4423

Note:  this is organization is devoted to conditions affecting growth and development.

General Information about Birth Defects
March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
Phone: (914) 997-4488
Email: or
Website: and

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Phone: (301) 251-4925
Toll-free: (888) 205-2311

(end of information reformatted from NORD)

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