Freeman-Sheldon syndrome--prenatal and postnatal diagnosis.
A six-day-old girl, born to normal non-consanguineous parents presented with mask like facies with a small mouth giving a 'whistling' appearance. Other dysmorphic features include deep set eyes, broad nasal bridge, long philtrum and 'H' shaped cutaneous dimple on the chin. There was congenital windmill vane hand position and severe talipes equinovarus deformity. The above features are characteristic of Freeman-Sheldon syndrome also known as Whistling Face syndrome. Ultrasound scanning during 8(th) month of the pregnancy showed the fetus to have facial abnormality and bilateral clenched hand and talipes with extension contractures of knees. Provisional diagnosis of FSS was made which was confirmed after the birth. Thus all cases of Arthrogryposis during prenatal scan should be carefully looked for the facial abnormality in the fetus.
Hegde
Sridevi S
SS
Department of Medical Genetics, Manipal Hospital Bangalore, Bangalore, India. sridevi.hegde@manipalhealth.com
Shetty
Mitesh S
MS
Rama Murthy
B S
BS
D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D003598:Cytoskeletal Proteins / Q000235:genetics; D019066:Facies; D005260:Female; D005530:Foot Deformities / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007717:Knee / Q000503:physiopathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
D003598:Cytoskeletal Proteins; C510594:MYH3 polypeptide, human