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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Fig. 1

Dysmorphic features and changing phenotype of patient 1 at the age of 3 y 7 m (a-d) and 9 y 3 m (e-h) respectively. (a, e) Characteristic facial features. Facial features are dolichocephaly, high prominent forehead, thin sparse hair, full cheeks, strabismus, broad prominent nasal bridge, flat philtrum columns, narrow mucus upper lip, everted lower lip, open mouth, low-set prominent ears, microretrognathia. (b, f) A facial lateral view showing low set ears and sparse hair. (c) Narrow chest, pectus excavatum. (d) Brachydactyly and overlap of toes. (g) Whole body image showing proximal limb shortening, a short broad neck, a narrow thorax and obesity. (h) Brachydactyly of the right hand

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