Article
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.
Prenatal diagnosis - 1 Feb 2014
Dempsey M A, Knight Johnson A E, Swope B S, Moldenhauer J S, Sroka H, Chong K, Chitayat D, Briere L, Lyon H, Palmer N, Gopalani S, Siebert J R, Lévesque S, Leblanc J, Menzies D, Haverfield E, Das S
Abstract excerpt
OBJECTIVES: Cornelia de Lange syndrome (CdLS) is characterized by distinct facial features, growth retardation, upper limb reduction defects, hirsutism, and intellectual disability. NIPBL mutations have been identified in approximately 60% of patients with CdLS diagnosed postnatally. Prenatal ultrasound findings include upper limb reduction defects, intrauterine growth restriction, and micrognathia. CdLS has also...
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