Özet:

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.

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