chapter  23
30 Pages

Complex malformative syndromes with distinctive cutaneous signs

Extracutaneous manifestations ● Characteristic broad thumbs and great toes (Figure 23.2) ● Broad terminal phalanges in the other fingers (Figure 23.2) ● Clinodactyly of the fourth toe and of the fourth and fifth fingers ● Distinctive facies consisting of microcephaly prominent forehead, beaked nose with nasal septum below alae, deformed ears, high arched palate, irregular and crowded teeth (Figure 23.4)

Figure 23.2

Figure 23.3 ● Ocular abnormalities including strabismus, cataract, blepharoptosis; hearing loss ● Short stature with bony abnormalities of ribs, vertebrae and sternum; obesity ● Cryptorchidism

Figure 23.4 ● Cardiac abnormalities; septa; heart defects (30%) ● Severe mental and motor retardation ● Report of increased incidence of polyhydramnios during pregnancy ● Increased tumor risk


There can be frequent infections.