An interesting case of familial chylomicronemia syndrome in a cleft palate child

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An interesting case of familial chylomicronemia syndrome in a cleft palate child

Familial chylomicronemia syndrome is a very rare condition with an incidence of one in one million. We report such a condition detected incidentally in a cleft child.

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Two Case Reports of Familial Chylomicronemia Syndrome

Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.

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Familial Chylomicronemia Reported in a Ten Days Old Neonate

There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. The authors report a neonate affected by familial hyperchylomicronemia, While being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. Based on this very abnormal lipid profile...

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Kabuki Syndrome with Cleft Palate

Kabuki syndrome is a rare condition characterized by multiple congenital anomalies and intellectual disabilities [1]. The etiology of Kabuki syndrome is unclear, but the syndrome is known to have an autosomal dominant mode of inheritance. Furthermore, mutations in the MLL2 and KDM6A genes have recently been suggested as causes of this syndrome [2]. The five major clinical manifestations of this...

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ژورنال

عنوان ژورنال: Indian Journal of Plastic Surgery

سال: 2008

ISSN: 0970-0358,1998-376X

DOI: 10.1055/s-0039-1699232