Hydrocephaly, Schizencephaly, Spondylocostal Dysplasia, and Hypoparathyroidism in an Infant of a Diabetic Mother
نویسندگان
چکیده
منابع مشابه
Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies
Jarcho-Levin syndrome is a rare genetic disorder characterized by respiratory insufficiency and multiple spine and rib abnormalities. It was first described by Jarcho and Levin in 1938. Spondylocostal dysostosis (SCD) and spondylothoracic dysostosis (STD) are the subtypes of Jarcho-Levin Syndrome, which show a hereditary picture. Autosomal dominant, autosomal recessive, and sporadic cases have ...
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caudal regression syndrome (caudal dysplasia sequence) is a rare congenital malformation. it has a spectrum ranging from simple anal atresia to the absence of sacral, lumbar and possibly lower thoracic vertebrae and the most severe form called sirenomelia (mermaid syndrome). sirenomelia has a sole characteristic, which is the limbs fusion, with multiple internal structural abnormalities particu...
متن کاملGoldenhar Syndrome in an Infant of Diabetic Mother
BACKGROUND Goldenhar syndrome (oculoauriculovertebral dysplasia) is a rare congenital anomaly with unknown etiology and consists of non accidental association of hemifacial microsomia, auricular anomalies, epibulbar dermoid and vertebral anomalies. Although some malformations are more frequent in infants of diabetic mothers, developmental defects of first and second branchial arch is not a comm...
متن کاملCoexistence of schizencephaly and intracranial arteriovenous malformation in an infant.
A 9-month-old infant had unilateral closed-lip schizencephaly in the right parietal lobe, which coexisted with an arteriovenous malformation in the nearby temporal area. Cranial MR showed a right parietal cleft lined with gray matter between the right lateral ventricle and the subarachnoid space, and cluster hypointensities throughout the right temporal lobe. Cerebral angiography revealed a rig...
متن کاملSpondylocostal dysplasia and neural tube defects.
Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed ...
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ژورنال
عنوان ژورنال: Acta Endocrinologica (Bucharest)
سال: 2017
ISSN: 1841-0987,1843-066X
DOI: 10.4183/aeb.2017.494