Bangstad syndrome
From Infogalactic: the planetary knowledge core
Bangstad syndrome | |
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
OMIM | 210740 |
Patient UK | Bangstad syndrome |
Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane.
It was characterized in 1989.[1]
Presentation
Presenting at birth,[2] features of the disorder include moderately severe IUGR, microcephaly, craniosynostosis, moderately severe post uterine growth retardation, deafness, deep set eyes, cryptorchidism, truncal obesity[clarification needed] and acanthosis nigricans, small teeth, prognathism, dislocated radial heads without generalized skeletal dysplasia, however, tall vertebrae, moderate mental retardation, hypothyroidism, insulin resistance, hypoparathyroidism.
References
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