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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Children with the Sanjad Sakati syndrome have a triad of:
a) hypoparathyroidism (with episodes of hypocalcemia, hypocalcemic tetany and hypocalcemic seizures.
b) severe mental retardation and
c) dysmorphism.
Typically, children with this syndrome are born low-birth-weight due to intrauterine growth retardation. At birth, there is dysmorphism, which is later typified into the features described below. The child is stunted, often with demonstrable growth hormone deficiency and has moderate to severe mental retardation, mainly as a consequence of repeated seizures brought on by the low blood ionic calcium levels. The immuno-reactive parathormone levels are low to undetectable, with low calcium and high phosphate levels in the blood.
"Dysmorphism" is most evident on the face, with the following features:
- Long narrow face
- Deep-set, small eyes
- Beaked nose
- Large, floppy ears
- Small head (microcephaly) and
- Thin lips with a long philtrum.
Other features include:
- Stunting
- Small hands and feet with long, tapering fingers and clinodactyly
- Dental anomalies in the form of malalignment and malocclusion
In another study of six patients, the patients were investigated further. They were found to have low levels of IGF-1 and markedly retarded bone age.