Fig. 1
- ID
- ZDB-FIG-221212-17
- Publication
- Motta et al., 2021 - SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
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Clinical features and pedigrees of the subjects with bi-allelic inactivating SPRED2 variants (A) Facial features of the four individuals included in this study. Note the occurrence of bitemporal narrowing, hypertelorism, down-slanting palpebral fissures, ptosis, low-set/posteriorly rotated ears with evident antitragus, wide nasal bridge, and low posterior hairline with a webbed/short neck. Typical NS chest anomalies (superior pectus carinatum and inferior pectus excavatum) are also evident. Craniofacial features resemble NS. The NS facial gestalt is particularly represented in subject 2-II-1. (B) Pedigree charts of the three families with bi-allelic inactivating SPRED2 variants. All probands were born from first cousins. Note the high inbreeding of family 1. |