Freeman-Sheldon Syndrome with Pulmonary Hypoplasia: A Rare Case Report


Dr Sourajit Routray, Dr Samarendra Mahapatro, Dr Nijwm Mahilary    31 May 2018


Freeman-Sheldon syndrome, congenital dysplasia, facial skeletal abnormalities, respiratory distress

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 myopathy.¹ It is also termed as distal arthrogryposis type 1, 2A.¹ These individuals have a full forehead and mask-like 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 scoliosis.² The syndrome may be suspected clinically. All the patients may or may not necessarily have all the features described under this syndrome.³

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 outborn case (product of nonconsanguineous marriage) was a term (39 weeks), female neonate, delivered through cesarean 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, 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 check-up. 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 at 4 hours of birth. Birth weight was 3 kg and head circumference was 34 cm. The child was tachypneic (respiratory rate of 80/min), heart rate 158/min, diminished breath sound over left 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 (Figs. 1-3). Routine hemogram and electrolytes were normal. Sepsis screenings were negative. Chest X-ray revealed pulmonary hypoplasia (L) (Fig. 4).

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 showed fibrosis of the muscles.

The baby died on Day 6 of life inspite of proper medical management and ventilator support due to pulmonary hemorrhage.


‘Whistling face’ syndrome was first described by Freeman and Sheldon in 1938.¹ The incidence and sex ratio is not known, as it has been estimated that only 100 cases had been reported throughout the world till date.¹ It is an autosomal dominant disorder.² In 1984, Fitzsimmons et al reported some families having autosomal recessive inheritance.² Sporadic occurrence has also been reported.⁴ 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 clearly.³ 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 nerves.4 The biopsy of the muscles which are affected reveals fibrosis, which may contribute to contractures.³ Stevenson et al published the strict diagnostic criteria for Freeman-Sheldon syndrome in March 2006.⁵ These included two or more of the following: Microstomia, whistling face, deep nasolabial folds, H- or V-shaped chin dimpling.⁵ 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, two patients had no mutation.⁶ 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 in 2006 by Stevenson et al (distal arthrogryposis, broad nose, long philtrum, 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 history.⁷ The ultrasonography shows abnormality in the extremities and the mouth.⁷ The treatment is surgical correction of club foot and craniofacial abnormality by combined efforts of both orthopedic and craniofacial surgeon.⁸,⁹ Medical intervention is required during repeated episodes of bronchitis and pneumonia.


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.


  1. Freeman EA, Sheldon JH. Cranio-carpo-tarsal dystrophy. Arch Dis Child 1938;13(75):277-83.
  2. Hall JG. Overwiew of Arthrogryposis (Chapter 1). In: Arthrogryposis:  A Text  Staheli LT, Hall JG, Jaffe KM, et al. Pg. 4-13.
  3. Attia A, Suleman M,  Abd  Al  Aziz  Al Freeman-Sheldon  syndrome  with  respiratory  failure:  a  case  report. Respiratory Medicine CME 2008;1(4):274-7.
  4. Sauk JJ Jr, Delaney JR, Reaume C, Brandjord R, Witkop CJ Jr. Electromyography of oral-facial musculature in craniocarpaltarsal dysplasia (Freeman-Sheldon syndrome). Clin Genet 1974;6(2):132-7.
  5. Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 2006;117(3):754-62.
  6. Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38(5):561-5.
  7. Robbins-Furman P, Hecht JT, Rocklin M, Maklad N, Greenhaw G, Wilkins I. Prenatal diagnosis of Freeman-Sheldon syndrome (whistling face). Prenat Diagn 1995;15(2):179-82.
  8. Malkawi H, Tarawneh M. The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature. J Pediatr Orthop 1983;3(3):364-9.
  9. Call WH, Strickland JW. Functional hand reconstruction in the whistling-face syndrome. J Hand Surg Am 1981;6(2):148-51.

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