Volume 27, Issue 136, June 2023

Beaked nose with syndactyly: A rare case of Rubenstein-Taybi syndrome

Kushal Desai^1♦, Amar Taksande², Ravat Meshram³, Apoorv Jain¹

¹MBBS, Pediatric Resident, Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Sawangi Meghe, Wardha, Maharashtra, India
²Professor & Head, Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Sawangi Meghe, Wardha, Maharashtra, India
³Associate Professor, Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Sawangi Meghe, Wardha, Maharashtra, India

^♦Corresponding author
MBBS, Pediatric Resident, Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Sawangi Meghe, Wardha, Maharashtra, India

ABSTRACT

Rubinstein-Taybi syndrome is a rare genetic disorder characterized by facial dysmorphism along with multiple malformations. A 6 years old male child was brought to the Department with complaints of stammering speech and webbed as well as joint fingers. Extraoral features revealed characteristic facial appearance with a nasal septum extending below alae nasi i.e., beaked nose, posteriorly rotated ears, maxillary hypoplasia and the clinical features, cardiac abnormality and treatment plan of this patient are considered in this case report. Identification of multiple malformations associated with this syndrome is pivotal for an early diagnosis as multidisciplinary approach is required in the initial evaluation, treatment and follow-up among these patients.

Keywords: Rubinstein–Taybi syndrome (RTS) or (RSTS), Beaked nose, Broad thumb–hallux syndrome, Clinodactyly, Syndactyly

Medical Science, 2023, 27, e280ms3070

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DOI: https://doi.org/10.54905/disssi/v27i136/e280ms3070

Published: 29 June 2023