Department of Neonatology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India
*Corresponding Author: Srijan Singh, Senior Registrar, Department of Neonatology, Seth G S Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.
Received: June 02, 2020; Published: July 23, 2020
Treacher Collins syndrome is an inherited disorder of craniofacial development characterized by antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and hypoplastic zygomatic arches. Treacher Collins syndrome is an autosomal dominant disorder with variable expression. Congenital arhinia is a particularly rare malformation due to disordered embryological development of the nose. Some cases of arhinia have been described as an extreme manifestation of Treacher Collins syndrome. We are reporting a case of extreme manifestation of Treacher Collins Syndrome which wasantenatally diagnosed to have severe craniofacial anomalies. Both grandfather and father had manifestations of Treacher Collins syndrome. Clinical examination shortly after birth revealed arhinia and absent nasal bone. Baby had bilateral eyelid colobomas, flat supraorbital ridges and blepharospasm with anotia of the right ear and microtia of the left ear. CECT scan showed hypoplastic mandibles and maxilla. Paranasal sinuses were not formed. No nasal structures were seen and nasal cavity was virtually absent. We found three equivocal examples of Treacher Collins syndrome with arhinia in the literature [5-7]. But the infant in our case also has single kidney and this association has not been describedin literature. Confirmation would have required identification of the precise mutation in this child which could not be done as the child succumbed to sepsis on day twenty of life.
Keywords: Treacher Collins Syndrome; Arhinia;Craniofacial; Single Kidney; Colobomas
Citation: Srijan Singh. “Extreme Manifestation of a Familial Case of Treacher Collins Syndrome in an Infant with Arhinia, Eyelid Colobomas and Single Kidney". Acta Scientific Paediatrics 3.8 (2020): 06-09.
Copyright: © 2020 Srijan Singh. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.