ABSTRACT
Amelia is a rare syndrome characterized by complete absence of one or all four limbs. We reported two cases of amelia observed in service A of the CMNT during 2002. The purpose of this article is to discuss the different etiologies of this malformation and to underline the contribution of the ultrasound done early [12 weeks of gestation]. Amelia is the result of toxic, mechanic or genetic causes. The antenatal diagnosis by ultrasonography is very useful
Subject(s)
Humans , Male , Female , Dandy-Walker Syndrome/pathology , Prenatal Diagnosis , Genetic Counseling , Congenital AbnormalitiesABSTRACT
The Mckusick Kaufman syndrome is a rare autosomal recessive disorder characterised by a triad of hydrometrocolpos, post axial polydacryly and congenital heart disease. Multiple other anomalies may be associated. A great phenotypic variability ocurs in this syndrome make it very difficult to identify and classify it correctly. A new observation of this syndrome is presented in a female full term new-born of first cousin parents. The prenatal diagnosis of the hydrocolpos is done at the 12 weeks of gestation. Both hydrocolpos and post axial polydactyly allowed to carry the diagnostic of the Mckusick syndrome in this observation without congenital heart disease
Subject(s)
Polydactyly , Heart Defects, Congenital , Prenatal DiagnosisABSTRACT
In order of a better normal human digestive mucins codification, we have undertook a histochemical approach of these mucins on biopsical samples of normal digestive mucus and on the principal salivary glands. A comparative study was realized on the f'tal tissues and colic and gastric adenocarcinomatous tumors, Identification of different reactions of the mucins nature were utilized. In the Salivary glands, the secreted mucins by mucous portion are of acid type richly sulfated. On the level of the digestive tube, the stomach epithelium, the cardial and antropyloric glands and either the duodenum Brunner Glands elaborate the neutral mucins [fucomucins]