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OrphanAnesthesia
M. I. Buget, S. Kucukay

Hamamy syndrome

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Keywords Hamamy syndrome; ICD 10: – OMIM: 611175; Synonyms: Craniofacial dysplasia-osteopenia syndrome
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Summary

Hamamy Syndrome (HS) is a very rare disease initially described by Hamamy et al. HS results from a congenital homozygous mutation of the IRX5 gene on chromosome 16q12.2 [1].

At present, only 5 patients have been reported in the literature and one of them deceased. Mutations in the IRX5 homeobox cause a recessive congenital disorder affecting the face, brain, erythrocytes, heart, bone and gonadal development [2]. This suggests that IRX proteins may be crucial for the ontogeny and function of many organs both in newborns and adults [2]. This syndrome is characterised by craniofacial dysmorphism including midface prominence (“bulging”), upslanting palpebral fissures with sparse lateral eyebrows, severe telecanthus, lacrimal-salivary apparatus agenesis, fronto-nasal abnor-malities, thin upper vermillion border, protruding ears, myopia, mental retardation, sen-sorineural hearing impairment, enamel hypoplasia or hypodontia, gonadal anomalies, sloping shoulders, low posterior hairline, congenital heart anomalies (VSD, atrioventricular canal) with intraventricular conduction anomalies, pectus excavatum, hypochromic microcytic anaemia, and skeletal abnormalities of the long bones with recurrent fractures [2]. Anaemia, difficult airway and cardiac pathologies are the possible difficulties in the anaesthesia management of HS patients.

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