cra·ni·o·car·po·tar·sal dys·tro·phy

[MIM*193700]

a syndrome characterized by specific facial features with sunken eyes, hypertelorism, long philtrum, small nose, and small mouth with pursing of lips as in whistling, and skeletal malformations with ulnar deviation of hands, camptodactyly, talipes equinovarus, and frontal bone defects; autosomal dominant inheritance.

Synonym(s): craniocarpotarsal dysplasia, Freeman-Sheldon syndrome, whistling face syndrome

Farlex Partner Medical Dictionary © Farlex 2012

An autosomal dominant [MIM 193700] or less commonly, or autosomal recessive [MIM 277720] condition with atypical mask-like facies—small ‘pursed’ lips, deep-set/sunken eyes, epicanthus, hypoplastic nasal alae, blepharophimosis,strabismus, patientosis—accompanied by failure to thrive, normal IQ, short stature, scoliosis, camptodactyly with ulnar deviation—‘windmill hands’—talipes equinovarus or clubfoot

Freeman,

Ernest A., English orthopedic surgeon, 1900-1975.

Freeman-Sheldon syndrome - Synonym(s): craniocarpotarsal dystrophy

Sheldon,

Joseph H., English pediatrician, 1920-1964.

Freeman-Sheldon syndrome - Synonym(s): craniocarpotarsal dystrophy

Medical Eponyms © Farlex 2012

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References in periodicals archive

Sawant, "Anaesthesia challenges in Freeman-Sheldon syndrome," Indian Journal of Anaesthesia, vol.

Mayhew, "Anesthesia for children with Freeman-Sheldon syndrome," Anesthesiology, vol.

Karaca, "Anesthetic management of a patient with Freeman-Sheldon syndrome," Pediatric Anesthesia, vol.

Caroff, "Neuroleptic malignant syndrome induced by metoclopramide in an infant with Freeman-Sheldon syndrome [22]," Anesthesia & Analgesia, vol.

Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery

Bamshad, "Genotype-phenotype relationships in Freeman-Sheldon syndrome," American Journal of Medical Genetics, Part A, vol.

Chrispin, "Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance," Journal of Medical Genetics, vol.

[20] Tso-Ren Wang and Shio-Jean Lin, "Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family," American Journal of Medical Genetics, vol.

Park, "Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation," American Journal of Medical Genetics, Part A, vol.

Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

(5.) Sanchez JM, Kaminker CE New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. Am J Med Genet 1986; 25:507-511.

Freeman-Sheldon syndrome: report of these cases and anaesthetic implications.

Anaesthetic management of a patient with Freeman-Sheldon syndrome. Paediatr Anaesth 2004; 14:874-877.

Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon syndrome. Anesthesiology 1992; 77:599-600.

Anaesthetic management of a child with Freeman-Sheldon syndrome undergoing spinal surgery