(Whistling face syndrome, Whistler syndrome, the face of Whistler syndrome, cranio-carpo-tarsal syndrome, Freman-Sheldon syndrome, distal arthrogryposis type DA2A or DA2B3, Windmill-Vane-Hard syndrome)
Not to be mistaken for Sheldon-Hall syndrome (see this term) [MIM 618436] or distal arthrogryposis type DA2B, also caused by a mutation of the MYH3 gene, with which it is often confused
Prevalence is estimated at less than 1/106. Dysmorphic syndrome. Autosomal dominant and sometimes recessive [MIM 193 700] transmission but most cases are sporadic. Mutation of the MYH3 gene (17p13.1) coding for one of the heavy chains of the embryonic myosin: this myosin is an essential element of the fetal myotubes and disappears progressively after birth. It is a slowly progressive craniofacial myopathy with a congenital disproportion of the different types of muscle fibers (distal type DA2A arthrogryposis) involving especially the face, limbs, and respiratory muscles. Whitish fibrous bands replacing the damaged muscle are present in between normal muscle tissue.
A similar phenotype called CLIFAHDD, acronym for Congenital contractures of the LImbs and FAce, Hypotonia, and Developmental Delay, caused by a mutation of the NALCN gene (13q33) [MIM 616 266] is associated with developmental retardation.
The severity of the clinical presentation is variable.
Association of:
- dysmorphism: elongated and poorly mobile facies, pursed lips as for whistling, microstomia, protruding nasolabial fold, 'H' or 'V' dimple on the chin, blepharophimosis, hypoplatic alae nasi, high-arched palate, long philtrum, sometimes mandibular and midface hypoplasia; sometimes scaphocephaly.
- osseous anomalies and joint contractures: equinovarus clubfoot, campodactyly with ulnar deviation of the fingers
- severe scoliosis, cyphosis, lordosis, reduced neck mobilityk
- intercostal muscles are sometimes inefficient causing a restrictive syndrome with abdominal breathing and a risk of chronic cor pulmonale
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Anesthetic implications:
difficult intubation because the opening of mouth is small and neck is often stiff. Difficult peripheral venous access . Stiffness during the administration of halothane or succinylcholine but children were anesthetized with halogenated agents without signs of malignant hyperthermia: the risk of developping an malignant hyperthermia is similar to that of the general population. Increased risk of postoperative respiratory complications. A febrile infant presented a malignant syndrome to neuroleptics following administration of multiple doses of metoclopramide.
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Updated: July 2024