hypertelorism/albúmina

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Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (Opitz-G syndrome).

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Non-immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in

Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation.

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Congenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was a chromosomal disease

[Hennekam syndrome: a case report and review of literature].

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OBJECTIVE To study the clinical characteristics of Hennekam syndrome. METHODS We described a case of long-term iron deficiency anemia, characteristic facial anomalies, growth retardation, and intestinal lymphangiectasia. To our knowledge, this is the first case of Hennekam syndrome reported in

Acrodysostosis associated with hypercalcemia.

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An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing,

[Hennekam syndrome].

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Hennekam syndrome is a disorder comprising intestinal lymphangiectasia, facial anomalies and moderate mental retardation. Eight cases have been previously reported. METHODS A 17-month-old girl was admitted to hospital for peripheral edema. On physical examination, she presented with a normal mental

[A complicated case study: Hennekam syndrome].

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Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation

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Rational: Intestinal lymphangiectasia (IL) is a rare disease characterized by dilatation and rupture of intestinal lymphatic channels leading to protein-losing enteropathy. IL is classified as primary and secondary types.

In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.

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BACKGROUND The megalin/cubilin/amnionless complex is essential for albumin and low molecular weight (LMW) protein reabsorption by renal proximal tubules (PT). Mutations of the LRP2 gene encoding megalin cause autosomal recessive Donnai-Barrow/facio-oculo-acoustico-renal syndrome (DB/FOAR), which is

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