The Whistling Face Syndrome— Cranio-Carpo-Tarsal Dysplasia

Abstract

A boy with the whistling face syndrome or cranio-carpotarsal dysplasia is described. He had severely limited respiratory excursions, which apparently predisposed him to atelectasis and respiratory infections following general anesthetics. A review of the natural history and variability of the syndrome is presented.

p.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented with Freeman-Sheldon Syndrome

“…Sporadic cases with no family history of FSS or consanguinity had been published [6], with evidence of autosomal dominant inheritance in some cases [7]. Recently, a sporadic case of FSS, based on the typical facies and limb abnormalities with unusual skin dimples has been reported [3].…”

Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss

“…Brain stem abnormalities could account for the abnormal respiratory, and cough reflex; these in turn may contribute to the respiratory problems described in FSS [Fraser et al, 1970;MacLeod and Patriquin, 1974;Wettstein et al, 1980;Laishley and Roy, 1986;Vanek et al, 19861. CNS abnormalities may also be involved in the severe hypertonicity observed in these patients.…”

“…The most severe complications described in FSS are the difficulty in swallowing and the pulmonary problems; the former ascribed to the mouth deformity [Weinstein and Gorlin, 1969;Fraser et al, 1970;O'Connell and Hall, 1977;Kousseff et al, 19821 and the latter due to a decreased thoracic expansion [Fraser et al, 1970;MacLeod and Patriquin, 1974;Vanek et al, 19861. Neither neurologic nor auditory abnormalities have been previously reported.…”

Freeman-Sheldon Syndrome (Whistling Face Syndrome) and Cranio-Vertebral Junction Malformation Producing Dysphagia and Weight Loss

“…Microstomia and tris mus are due to fibrosis and atrophy of the muscles about the mouth. Biopsy and electromyelogram of these muscles show diffuse atrophy, denervation of buccinator muscle as well as hand and foot muscles [6][7][8][9]. O'Connell and Hall [10] reported that feeding difficulties were caused by microstomia, a long, poorly functioning soft, high-arched palate, and a marked shortening of the body of the mandi ble with a sharp pronounced symphysis in 5 of 7 cases.…”

“…The cause of dysphagia was determined to be second ary to basilar compression by the odontoid process. In Freeman-Sheldon syndrome variable changes have been reported in the skull including brachiocephaly, steep ante rior fossa, craniofacial disproportion, and straight jaw [4,6,16]. There has been no prior report on dysphagia of late onset caused by basilar impression.…”