Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Abstract

Smith-Lemli-Opitz syndrome is a rare syndrome with multiple congenital anomalies after birth and characteristic with mental retardation. Hereditary cholesterol diseases are an autosomal recessive form of metabolic disturbances. There are two types: Type I with mild clinical signs (classical form) and Type II with severe clinical signs. The Type I form with a higher chance of survival is more common. There are typical craniofacial findings such as microcephaly, low-set ears, micrognathia, flattened nasal root and bitemporal narrowing. Cleft palate and/or deep palate enlarged alveolar bones, small-sized tongue and swallowing strength are noticeable mouth-related findings. Patients recover at a certain rate with early medical treatment. Early dental treatments are based on eliminating symptomatic problems. A 3-week-old male patient presented with a deep palate, swallowing difficulty, a problem of nourishment, and SLOS Type I was presented.

Inborn errors of metabolism and their impact in paediatric dentistry

“…Smith-Lemli-Opitz syndrome (SLOS), an inborn error of cholesterol metabolism can present with a wide range of craniofacial features such as microcephaly, inferiorly positioned ears, ptosis, epicanthal folds, anteverted nares and bitemporal narrowing. 52,53 Such pathognomonic features can be clinically relevant in formulation of a diagnosis. Consequently, dentists and oral and maxillofacial surgeons can have a fundamental role in identifying undiagnosed SLOS.…”