Multiple Pterygium Syndrome (Escobar Syndrome) : Report of a Case with Surgical Correction and Review of Literature

Pornswan Wasant, Kamolporn Kaewpornswan, Montri Kitmanee

Abstract


     Escobar (multiple pterygium) syndrome is a rare autosomal recessive disorder characterized by short stature, multiple pterygium, joint contractures, vertebral fusions and minor facial anomalies. There is extreme phenotypic variability. The etiologic and genetic basis of multiple congenital pterygium is very heterogenous. Mutidisciplinary approach includes primary care physician or pediatrician, orthopedist, physical therapist and plastic surgeon.
     We report a case of multiple pterygium syndrome most likely the first reported case in Thailand that still alive and have had successful operative treatment of the spine and left foot.
     This 5-year-old Thai girl with short stature, ptosis of both eyelids, antimongoloid slant of palpebral fissures, hypertelorism, micrognathia, flat facies with emotionless expression, pterygium at neck, axillae, antecubital, popliteal, thumbs in palms, talipes equinovarus deformity, scoliolordosis at thoracic spine was described. She went through successive operations : plastic surgical correction of ptosis of both eyelids; anterior spinal fusion at thoracic spine; postero medical release at left foot with good result.

 


Full Text:

PDF




Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Refbacks

  • There are currently no refbacks.



Contact address:
Amornrat Sangkaew
Editorial Office Secretary
SiMR Bldg., 2nd Fl., Room No.207, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Tel: +662 419 2884 | Fax: +662 411 0593 | Email: sijournal@mahidol.ac.th