New oral findings in Hamamy syndrome

Banna, Sajeda Al; Hassona, Yazan

doi:10.1111/scd.12322

Special Care in Dentistry

2018

DOI: 10.1111/scd.12322

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New oral findings in Hamamy syndrome

Sajeda Al Banna

Yazan Hassona

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“…Patients exhibit osteopenia with long bone fractures, sensorineural hearing loss, dental problems, and have normal to borderline intelligence. The literature mainly focuses on fracture management, 3 dental abnormalities, 4,5 chromosomal anomalies, 6 and neuropsychiatric manifestations. 7 In this paper, we report on a 21-year-old male patient with Hamamy Syndrome who presented to our clinic with decreased vision in the right eye 9 months before his admission to our department in 2016.…”

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Endoscopic Optic Nerve Decompression in a Hamamy Syndrome Patient With Bilateral Optic Canal Stenosis

Özer,

Külekci

2024

Journal of Craniofacial Surgery

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Hamamy Syndrome is an autosomal recessive syndrome with craniofacial, neurological, and osteological implications. Patients most commonly present with repeated long fractures however, other affected systems with their respective clinical presentations warrant a thorough reporting and understanding of this genetic disorder. Herein, the authors, present a 21-year-old male patient diagnosed with Hamamy Syndrome with bilateral stenosis of the optic canals and associated bilateral vision loss. This case report documents the patient’s initial presentation 6 years ago, which included a history of right vision loss for 2 months, followed by a 6-year follow-up period during which the patient underwent 3 optic nerve decompression surgeries. There is currently a limited number of reports in the English literature on Hamamy Syndrome, with the primary focus being on genetic, dental, orthopedic, and neuropsychiatric aspects, but the neural foraminal narrowing with associated neuropathy has never been reported.

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confidence: 99%

mentioning

confidence: 99%

Endoscopic Optic Nerve Decompression in a Hamamy Syndrome Patient With Bilateral Optic Canal Stenosis

Özer,

Külekci

2024

Journal of Craniofacial Surgery

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Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

Mégarbané¹,

Hana²,

Mégarbané³

et al. 2021

Mol Syndromol

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We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G>A (p.Arg168His) missense mutation in <i>IRX5</i> in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.

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New oral findings in Hamamy syndrome

Cited by 2 publications

References 2 publications

Endoscopic Optic Nerve Decompression in a Hamamy Syndrome Patient With Bilateral Optic Canal Stenosis

Endoscopic Optic Nerve Decompression in a Hamamy Syndrome Patient With Bilateral Optic Canal Stenosis

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

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