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|Year : 2010 | Volume
| Issue : 1 | Page : 37-39
Freeman-Sheldon syndrome with cerebral venous thrombosis: Is it a coincidence?
DM Al-Sajee1, OA Habbal2, ZS Reyes3
1 Department of Human and Clinical Anatomy, College of Medicine and Health Sciences, Postal code 123, P.O. Box 35, Al-khoudh, Oman
2 Department of Human and Clinical Anatomy, College of Medicine and Health Sciences, Al-khoudh, Oman
3 Neonatal and Intensive Care Ward, Sultan Qaboos University Hospital, Al-khoudh, Oman
|Date of Web Publication||12-Apr-2010|
D M Al-Sajee
Department of Human and Clinical Anatomy, College of Medicine and Health Sciences, Postal code 123, P.O. Box 35, Al-khoudh
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Al-Sajee D M, Habbal O A, Reyes Z S. Freeman-Sheldon syndrome with cerebral venous thrombosis: Is it a coincidence?. J Postgrad Med 2010;56:37-9
|How to cite this URL:|
Al-Sajee D M, Habbal O A, Reyes Z S. Freeman-Sheldon syndrome with cerebral venous thrombosis: Is it a coincidence?. J Postgrad Med [serial online] 2010 [cited 2021 Oct 28];56:37-9. Available from: https://www.jpgmonline.com/text.asp?2010/56/1/37/62428
Freeman Sheldon syndrome (FSS), a rare congenital syndrome with defined morphological features may be missed in view of its rarity and non identification of dysmorphic features  Its severity varies based on the degree of arthrogryposis, associated respiratory and swallowing difficulties, hearing loss and brain anomalies  We describe a hitherto un-documented feature that might represent a severe form of FSS or it is just a chance observation of these two rare conditions.
A female infant of consanguineous parentage aged eight days presented with dysmorphic features and seizures. The 26-year old mother had no history of previous illnesses. Three siblings had dysmorphism. One of them with abnormal facies and microcephaly had died at birth. Another had talipes equinovarus. This baby was delivered at 42 weeks of gestation vaginally without any complications at birth. The growth parameters were adequate for gestational age. She was dysmorphic with a puckered mouth, a prominent forehead, low set ears, widely spaced eyes, a flat face, a long philtrum, a short neck and micrognathia [Figure 1] and [Figure 2]. She also had arthrogryposis of hands and had bilateral talipes equinovarus. She developed intractable seizures requiring three anticonvulsants within three hours after birth. Magnetic Resonance Imaging of the brain revealed areas of thromboses involving the straight sinus [Figure 3] transverse sinuses and multiple occipital cortical veins. No intraparenchymal bleeds were identified. Focal white matter necrosis was detected in cerebellar white matter, caudate nuclei, frontal, posterior temporal and parietal corona radiata with generalized mild reduction of the cerebral volume. The basal ganglia were normal with no ventriculomegaly. The skeletal survey, abdominal ultrasound scan, echocardiogram, complete blood count including peripheral smear and the coagulation profile, thrombophilia test on the baby and the parents were all normal. Serial serum electrolytes, bone profile, metabolic screen (TANDEM, serum lactate and ammonia, urine ketone, blood gases, very long chain fatty acid) as well as chromosomal studies and fundoscopic examination were normal. Frequent episodes of apnoea necessitated tracheostomy at three months of age. The baby was last seen at six months of age with the tracheostomy, feeding orally, with delayed milestones and growth parameters.
The variable features of FSS include micrognathia, contracture of the facial muscles leading to a whistling facial appearance with camptodactyly of the fingers and talipes equinovarus. FSS is mostly sporadic.  Inherited FSS is either autosomal recessive or dominant with the recessive form presenting with severe developmental retardation.  Affected siblings and ulnar deviation of fingers affecting the uncle and the grandfather, suggests dominant inheritance in this case though it could not be confirmed by chromosomal studies. Breathing difficulty and the face contractures observed may be linked to brain anomalies as mentioned in the literature 
Known causes of cerebral venous thrombosis  were absent in this baby. It is therefore possible that the craniofacial malformations of FSS can alter cerebral morphology leading to a predisposition to thrombotic events. However, in the absence of some supporting data, this would be still speculative. More similar cases, if reported, could help confirm a real association, should it exist.
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[Figure 1], [Figure 2], [Figure 3]