Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome

Surg Radiol Anat. 2020 Nov;42(11):1377-1380. doi: 10.1007/s00276-020-02558-9. Epub 2020 Aug 28.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Bone Diseases / diagnosis*
  • Bone Diseases / genetics
  • Cone-Beam Computed Tomography
  • Consanguinity
  • Genetic Testing
  • Humans
  • Hypertelorism / diagnosis*
  • Hypertelorism / genetics
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Male
  • Myopia / diagnosis*
  • Myopia / genetics
  • Pedigree
  • Sella Turcica / abnormalities*
  • Sella Turcica / diagnostic imaging
  • Siblings
  • Sphenoid Sinus / abnormalities*
  • Sphenoid Sinus / diagnostic imaging

Supplementary concepts

  • Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility