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1.

Chondrodysplasia-pseudohermaphroditism syndrome

Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019). [from OMIM]

MedGen UID:
333149
Concept ID:
C1838654
Disease or Syndrome
2.

Trapezoidal vertebral body

An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side. [from HPO]

MedGen UID:
870717
Concept ID:
C4025171
Anatomical Abnormality; Finding

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