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Neil Tanna, MD, MBA; Diego A. Preciado, MD, PhD; Noa Biran, MD

Arch Otolaryngol Head Neck Surg. 2009;135(7):714-715.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disorder seen in children of Middle Eastern descent, predominantly of consanguineous parents. This disorder has been mapped to the long arm of chromosome 1 (1q42-q43) and is caused by mutations in the TBCE gene (OMIM 241410), encoding a tubulin-specific chaperone E.¹

Sanjad-Sakati syndrome, also called hypoparathyroidism-retardation-dysmorphism, is characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and typical facial dysmorphism. Clinical facial features include deep-set eyes, prominent forehead, microcephaly, thin lips, long philtrum, depressed nasal bridge with beaked nose, external ear anomalies, and microdontia.² The dysmorphic facial features, dwarf physiognomy, and possible need for tracheostomy pose a challenge for otolaryngologists. Herein, we report the case of an 18-year-old young man with SSS and discuss the otolaryngologic implications for this disorder.

REPORT OF A CASE

An 18-year-old Saudi young man, born to consanguineous . . . [Full Text of this Article]

COMMENT

CONCLUSION

AUTHOR INFORMATION

Author Affiliations: Division of Otolaryngology–Head and Neck Surgery (Drs Tanna and Preciado), The George Washington University (Dr Biran); Department of Otolaryngology, Children's National Medical Center (Dr Preciado), Washington, DC.

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