PYCR2Mutations cause a lethal syndrome of microcephaly and failure to thrive
نویسندگان
چکیده
منابع مشابه
An unusual cause of failure to thrive.
A 9 months old male child presented ,1·ith the complaints of failure to thriYe. F{;(·r;mg had been inadequate because of fatigue on sucking. He deYeloped noisy breathing at 5 months of age and was treated for repeated respiratory tract infections without a specific diagnosis. Physicai examination reYcalccl that his height and weight were helo\\ tne third percentile. He had noticeable i'lterc,,s...
متن کاملDiencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance.
Diencephalic syndrome is a rare but potentially lethal cause of failure to thrive in infants and young children. The diencephalic syndrome includes clinical characteristics of severe emaciation, normal linear growth, and normal or precocious intellectual development in association with central nervous system tumors. Our group initially described a series of 9 patients with diencephalic syndrome...
متن کاملBland-White-Garland syndrome – a rare and serious cause of failure to thrive
PATIENT Male, 0 FINAL DIAGNOSIS: Bland-White-Garland syndrome Symptoms: Cardiomegaly, feeding problems Medication: - Clinical Procedure: Reimplantation of the left coronary artery to the aorta Specialty: Pediatrics and Neonatology. OBJECTIVE Rare disease. BACKGROUND Bland-White-Garland syndrome (BWGS) is a very rare disease characterized by anomalous origin of the left coronary artery from ...
متن کاملDiencephalic syndrome: a frequently neglected cause of failure to thrive in infants
PURPOSE Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cas...
متن کاملAn unexpected cause of infantile failure to thrive.
The etiology of infantile failure to thrive in the US is extremely diverse. Causes range from naive or malevolent parents; cost of formula for low-income families; mothers inexperienced with breast-feeding; and a range of organic causes. Many experts categorize failure-tothrive (FTT) as either organic or nonorganic. Recognizing the initial stages of FTT is challenging, but becomes readily appar...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2016
ISSN: 0364-5134
DOI: 10.1002/ana.24678