Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
نویسندگان
چکیده
منابع مشابه
Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication
SUMMARY Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks' gestation with birth weight of 3.33 kg (-0.55 SDS) had typical phenotyp...
متن کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
متن کاملHeterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome
OBJECTIVE To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528). RESEARCH DESIGN AND METHODS Prospective clinical follow-up and genetic analysis by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers. RESULTS Genetic testing identified...
متن کاملPoland syndrome with a rare association.
Poland syndrome is a rare congenital anomaly typically characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. Occasionally functionally debilitating, the disorder is mostly benign in nature with the severe deformities requiring surgical correction. A need to watch for possible malignant associations is also warranted. We present a case of a young female with the q...
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ژورنال
عنوان ژورنال: Endocrinology, Diabetes & Metabolism Case Reports
سال: 2017
ISSN: 2052-0573
DOI: 10.1530/edm-16-0125