Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome
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Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome Suayip Burak Duman1 · Numan Dedeoglu1 · Büsra Arikan1 · Oguzhan Altun1 Received: 24 February 2020 / Accepted: 17 August 2020 © Springer-Verlag France SAS, part of Springer Nature 2020
Abstract Hamamy syndrome (HS) is an autosomal recessive syndrome with a genetic origin that is very rarely observed. The syndrome with craniofacial dysmorphisms, including midface prominence, severe telecanthus, sparse lateral eyebrows, protruding ears, fronto-nasal abnormalities, lacrimal–salivary apparatus agenesis, thin upper vermillion border, myopia, mental retardation, sensorineural hearing impairment, congenital heart anomalies with intraventricular conduction delay, hypochromic microcytic anaemia and skeletal abnormalities of the long bones with recurrent fractures. In this paper, we report a case of two brothers diagnosed with HS at the ages of 25 and 18 years, visited out clinic at different times due to dental reasons. In the radiological examinations, it was observed that both brothers have sphenoid sinuses agenesia, and their sella turcica were smaller than normal. HS may be observed very rarely, and it should be kept in mind that, in addition to various symptoms, it may also cause sphenoid sinus agenesis and sella turcica hypoplasia as shown for the first time in this case report. Keywords Hamamy syndrome · Sella turcica · Sphenoid sinus agenesis
Introduction Hamamy syndrome (HS) is an autosomal recessive syndrome with a genetic origin that is very rarely observed and defined for the first time by Hamamy [8]. To our knowledge, there are fewer than ten cases with HS in the literature. Hamamy et al. [8] examined two sons of a Jordanian Arab family aged 8 and 10 years and characterised the syndrome with craniofacial dysmorphisms, including midface prominence, severe telecanthus, sparse lateral eyebrows, protruding ears, fronto-nasal abnormalities, lacrimal–salivary apparatus agenesis, thin upper vermillion border, myopia, mental retardation, sensorineural hearing impairment, congenital heart anomalies with intraventricular conduction delay, hypochromic microcytic anaemia and skeletal abnormalities of the long bones with recurrent fractures. Bonnard et al. [4] proposed that these symptoms that are observed in HS originate from a mutation in a gene named IRX5. Currently, cone beam computed tomography (CBCT) is widely used to diagnostically image the head and neck * Suayip Burak Duman [email protected] 1
Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Inonu University, Malatya, Turkey
region [1]. CBCT enables three-dimensional (3D) data acquisition, followed by image reconstruction, display and interpretation. CBCT scans are fast and deliver only low doses of radiation, rendering the modality ideal for imaging children and claustrophobic adults.
Case reports 2 brothers diagnosed with HS at the ages of 25 and 18 years (ages at the time of CBCT imaging) visited
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