International Journal of Contemporary Pediatrics | January 2020 | Vol 7 | Issue 1 Page 212 International Journal of Contemporary Pediatrics Nandy A et al. Int J Contemp Pediatr. 2020 Jan;7(1):212-216 http://www.ijpediatrics.com pISSN 2349-3283 | eISSN 2349-3291 Case Report Deviation of paradigmatic mutations found in shprintzen-goldberg syndrome Arnab Nandy*, Sankar K. Das, Sumit Roy, Shreyasi Das INTRODUCTION Shprintzen-Goldberg (S-G) Syndrome recognized as a rare congenital connective tissue disorder characterized by craniofacial dysmorphism, craniosynostosis, and multisystem abnormalities. 1 Although craniosynostosis and marfanoid habitus known as common expression here yet a wide variety of phenotypic presentations could be noticed. 2,3 Often S-G syndrome mimic Marfan syndrome and Loeys-Dietz syndrome owing to their phenotypic overlapping. 4 Considering the rarity, S-G syndrome being primarily diagnosed with its’ clinical features as genetic basis of the condition observed to be deciphered gradually over time. 5 So far, autosomal dominant pattern of inheritance and sporadic incidences being reported for S-G syndrome where germline mutations which considered to be responsible for dysregulation of TGF-β cytokine during embryogenesis leading to such phenotypic presentation. 6 A patient with similar condition was evaluated where conventionally reported mutations were found to be absent. CASE REPORT A five-months old male infant was evaluated for congenital connective tissue disorder, initially presented with dysmorphic craniofacial features and developmental delay although ante-natal and perinatal history were insignificant. The infant was born full-term AGA with normal birth weight and recorded to have natal teeth and empty scrotal sac at birth. His elder male sibling was doing well. On examination, fused sagittal suture, ABSTRACT Shprintzen-Goldberg (S-G) Syndrome known as rare congenital connective tissue disorder where craniosynostosis and marfanoid habitus found to be the usual presentation. Craniofacial dysmorphism with multi-organ involvement documented to be amongst prominent features of this syndrome. Case characteristics is five-month-old male infant with craniosynostosis, and motor developmental delay was evaluated for congenital connective tissue disorder. Dysmorphic craniofacial features like dolichocephaly, triangular forehead, ocular hypertelorism, micrognathia and retrognathia were noticed besides congenital umbilical hernia, empty scrotal sac, clinodactyly with long slender fingers, hyper-mobile joints, hypotonia. Subsequent investigations revealed normal male karyotype (46, XY) while genetic analysis depicted missense mutations in six different genes. Conventionally, mutation in SKI gene reported for its’ associated with S-G syndrome where dysregulation of TGF-β signaling was discussed as the primary reason. In the present case discussed here, it was found to have polygenic mutational association where few novel genetic mutations were seen. Keywords: Craniofacial abnormality, Craniosynostosis, Germline mutation, Marfanoid habitus, Shprintzen-Goldberg Craniosynostosis syndrome, Undescended testis Department of Paediatric Medicine, North Bengal Medical College, Darjeeling, West Bengal, India Received: 03 October 2019 Revised: 04 November 2019 Accepted: 11 November 2019 *Correspondence: Dr. Arnab Nandy, E-mail: arnabn.office@gmail.com Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20195756