blepharophimosis/dyspnea

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

2 matokeo

Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Blepharophimosis syndrome is an autosomal dominant disorder characterized by eyelid malformation, involvement of reproductive system and abnormal facial morphology leading to difficult airway. We report a rare association of blepharophimosis syndrome and atrial septal defect in a 10-year-old girl

Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

This study is to present two Chinese siblings who were diagnosed with congenital disorders of glycosylation (CDG) IIb because of mannosyl-oligosaccharide glucosidase (MOGS) deficiency. The siblings visited our hospital due to "pulmonary infection". Facial dysmorphism including long

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Herbal & Natural Medicine

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