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VOL. 12, ISSUE 3 (2026)
VACTERL association accompanied by facial palsy: A rare paediatric rehabilitation case report
Authors
Dr. Yashodhan Chaughule, Dr. Tarun Naikwade, Dr. Nantha kumar L, Dr. Manikandan P, Dr. Pragati Chawla, Dr. Bhumika Marathe
Abstract
Background: VACTERL
syndrome (VACTERL association) is a group of growth abnormalities (birth
defects) that happen in the early stages of embryo development during
pregnancy. The term VACTER is an acronym that identifies parts of the body that
didn’t form properly during fetal development. Each case of VACTER syndrome is
unique. Diagnosis is clinical and requires at least three component features,
together with exclusion of overlapping syndromes such as CHARGE syndrome,
Fanconi anaemia, Holt–Oram syndrome and oculo-auriculo-vertebral spectrum. The
reported incidence is approximately 1 in 10,000 to 1 in 40,000 live births.
Physiotherapy documentation of this condition, particularly where craniofacial
involvement coexists, is limited. Case Presentation: A 9-year-old male child
presented with difficulty in performing facial expressions, non-fluent speech,
hearing difficulty and long-standing difficulty in passing stools. He had
undergone anoplasty on the first day of life for imperforate anus. Additional
findings included right-sided microtia, bilateral pre-axial polydactyly,
hemivertebra at the cervicothoracic region and a patent ductus arteriosus with
a small atrial septal defect that had resolved spontaneously on follow-up
two-dimensional echocardiography. Right-sided hypoplasia of the depressor
anguli oris muscle accounted for the asymmetry of facial expression. Conclusion:
This case illustrates the value of a systematic physiotherapy assessment in a
child with VACTERL association presenting with facial palsy and demonstrates
how an impairment-based ICF-structured rehabilitation programme can be designed
to address facial, communicative, respiratory and musculoskeletal consequences
of the condition.
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Pages:39-44
How to cite this article:
Dr. Yashodhan Chaughule, Dr. Tarun Naikwade, Dr. Nantha kumar L, Dr. Manikandan P, Dr. Pragati Chawla, Dr. Bhumika Marathe "VACTERL association accompanied by facial palsy: A rare paediatric rehabilitation case report". International Journal of Medical and Health Research, Vol 12, Issue 3, 2026, Pages 39-44
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