Melnick-Needles syndrome

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

Confusion

Lack of clarity and coherence of thought, perception, understanding, or action.


合計: 1

                       


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PMID (PMCID)
9409862
 MALE Infant, Newborn
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.
Nishimura G, Horiuchi T, Kim OH, Sasamoto Y.
Am J Med Genet. 1997;73(2):132-8.
The other patient possessed conspicuous undertubulation of the long bones, defective ossification of the spine, and severe undermineralization of the calvaria, which may have caused diagnostic confusion with AO I, AO III, and the lethal male phenotype of Melnick-Needles syndrome.