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Items: 2

1.

Ritscher-Schinzel syndrome 3

Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria (Kato et al., 2020). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210). [from OMIM]

MedGen UID:
1744611
Concept ID:
C5436883
Disease or Syndrome
2.

Poorly ossified vertebrae

Decreased ossification of the vertebral bodies. [from HPO]

MedGen UID:
867569
Concept ID:
C4021953
Finding

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