Figure 2
From: Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Facial features of ten affected children from six families, and two unaffected parents from one family. Facial features of family 1: (a,b) unaffected parents and (c–f) four affected children. In the children note variable features of short or upturned nose; depressed bridge; low-set, posteriorly angulated, or malformed ears; midface retrusion; broad/short neck; low posterior hairline; and curly hair. (g,h) Facial features of the affected brothers from family 2 demonstrating widely spaced eyes, down-slanted palpebral fissures, midface retrusion, full cheeks, a long philtrum, and overfolded, posteriorly angulated ears. (i–k) Features of individual II-1 from family 4 at three ages. (i) At 3 years of age, (j) at 7 years of age, and (k) at 14 years of age. Notice the short, broad neck; widely spaced eyes with down-slanted palpebral fissures and bilateral ptosis; low-set and posteriorly angulated ears; and pectus excavatum. Affected individual from family 5 at (l) 4 years of age, (m) 8 years of age, and (n) 6 years of age. Her features included down-slanted palpebral fissures; bilateral epicanthus and ptosis; broad neck; low-set, small, cupped ears; and a wide thorax. (o–q) Affected individual from family 8 showing widely spaced eyes; down-slanted palpebral fissures; mild ptosis; low-set and posteriorly angulated ears; a broad, webbed neck; and curly hair. (r,s) Features of individual II-2 from family 9. Note her widely set eyes, strabismus, bilateral epicanthus, down-slanted palpebral fissures, depressed nasal bridge, short and upturned nose, short and broad neck, and thickened vermilion of the lips.
