Abstract

The Freeman-Sheldon Syndrome is a rare congenital dysplasia characterizedby facial and skeletal abnormalities. Facial abnormalities are typical mask like face with distal arthrogryposis. There are many clinical features depicting the syndrome, but the presence of all in a single patient is not necessarily required for the diagnosis. Our case is a newborn with typical facial presentation as described in the syndrome along with respiratory distress. Basically by presenting this case, we hope to create an awareness regarding this clinical entity.

Introduction

Freeman-Sheldon syndrome otherwise termed as the “Whistling – face” syndrome is a rare congenital dysplasia characterized by facial and skeletal abnormalities secondary to a generalized myopathy¹. It is a type of Distal arthrogryposis type1, 2A¹. These individuals have a full forehead and masklike face with a small mouth giving a whistling face appearance. The mask like face is attributed to increased tone and fibrosis of facial muscles. The eyes are deeply set below the supraorbital ridge with blepharophimosis and ptosis. They have a short nose and broad nasal bridge, long philtrum, deep nasolabial folds, full cheeks, high arched palate, small tongue, an H shaped cutaneous dimpling on the chin, flexion of fingers, equinovarus feet with contracted toes, kyphosis, and scoliosis². The syndrome may be suspected clinically. All the patients may or may not necessarily have all the features described under this syndrome³. We report a case of a female neonate with distal arthrogryposis and mask like face presented to us with respiratory distress, later on diagnosed clinically as Whistling face syndrome.

Case Report

This outborncase (product of nonconsanguinous marriage) was a term (39 week), female neonate, delivered through caesarean section of a 32 year old Multipara, Hindu mother from Orissa. There was a bad obstetric history with one spontaneous abortion at 5th week and death of two term babies during neonatal period (one at day 2 and other at day 11 of life). None of the babies had any physical deformity, as per the history suggest, but documentation regarding previous issues were not available. The present issue was conceived after 2 years of the previous delivery. This mother had gone through proper antenatal checkup. No history of any drug intake other than the routine drugs prescribed to her during antenatal period. No other family member has history of any congenital deformity.The baby was received in the emergency department at4 hours of birth. Birth weight was 3.00 kg and head circumference was 34 cm. The child was tachypnic (respiratory rate of 80 per minute) , HR 158/min, deminished breath soundoverleft lung field, heart sounds normal, no murmur. Oxygen saturation on room air was 86% and rose to 94% with 5 L/min oxygen supplementation through oxygen hood. Abdominal examination was found to have no abnormality. The baby was having flat-mask like face (whistling face), club feet, joint contractures involving hand and feet, congenital dislocation of hip which was later confirmed by an X-Ray findings. Routine hemogram and electrolytes were normal. Sepsis screenings were negative. Chest X-Ray revealed pulmonary hypoplasia(L). Ultrasonography of the abdomen and the pelvis revealed normal findings. Neurosonogram , ECG, ECHO also revealed no abnormality. Serum creatinine kinase level was within normal limit. Muscle biopsy shows fibrosis of the muscles. The baby died on day 6 of life inspite of proper medical management and ventilator support due to pulmonary hemorrhage.

Discussion

“Whistling face” syndrome was first described by Freeman and Sheldon in 1938¹. The incidence and sex ratio is not known, as it has been estimated that only 100 cases had been reported throughout the world till date¹. It is an autosomal dominant disorder². In 1984 Fitzsimmons et al. reported some families having autosomal recessive inheritance². Sporadic occurrence has also been reported⁴. All the cases are not equally affected, as described in the spectrum of disorders and disabilities that are found in the Freeman-Sheldon syndrome. The mechanism behind skeletal and muscular dystrophy coming in combination has not been described clearly³. Sauk et al. suggested that it may be due to hypoplasia of the muscle bundles that are supplied by the major branch of the major nerves³. The biopsy of the muscles which are affected reveals fibrosis which may contribute to contractures³. Stevenson et al. published the strict diagnostic criteria for Freeman-Sheldon syndrome in March 2006⁵. These included two or more of the following: microstomia, whistling face, deep nasolabial folds, H or V shaped chin dimpling⁵. Toydemir et al. studied on 28 patients in 2006 and found mutation in MYH3 gene (embryonic myosin heavy chain 3) on chromosome no 17p-13.1-pter, among 26 patients, 2 patients had no mutation⁶. The pulmonary hypoplasia in this syndrome has not been described previously. Our case with respiratory distress was due to pulmonary hypoplasia. We clinically diagnosed the case as Whistling face syndrome under the context of the diagnostic criteria set up on 2006 by Stevenson et al (distal arthrogryposis, broad nose, long philtrum, and full cheeks, deep nasolabial fold, pursed out lower lip, mask like face and the muscle biopsy showing fibrosis, confirming myopathy of the muscles). The life expectancy, intelligence and cognitive functions are normal. Rarely, any patient dies due to respiratory failure in infancy. Antenatal diagnosis can be done at 20 week of gestation, in case of positive family history⁷. The ultrasonography shows abnormality in the extremities and the mouth⁷. The treatment is surgical correction of club foot and cranio-facial abnormality by combined efforts of both orthopedic and cranio-facial surgeon⁸,⁹ . Medical intervention is required during repeated episodes of Bronchitis and Pneumonia.

Conclusion

The motto of presenting this case is to enlighten the Pediatricians and General practitioners regarding the existence of this clinical entity and to take necessary intervention at the earliest.

Reference

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