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Article

[Smith Lemli Opitz Syndrome type II of neonatal diagnosis and review of the most interesting clinical features].

Revista de neurologia - 1 Jan 2000

Ramírez-Gómara A, Castejón-Ponce E, Martínez-Martínez M, García-Bodega O, Rite-Gracia S, Segura- Arazuri D, López-Pisón J, Baldellou-Vázquez A, Marco-Tello A, López-López A, Rebage-Moisés V

Abstract excerpt

INTRODUCTION: Smith Lemli Opitz syndrome is an autosomal recessive metabolic disease, two forms can be differentiated: type I and type II. CASE REPORT: We present the clinical case of a female newborn with antecedents of oligoamnios and intrauterine growth retardation who presented a characteristic malformative syndrome, severe neurological impairment, anomalies of the limbs, pyloric stenosis, and renal and...

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PMID: 12134326

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