Figure legend from original publication:

Figure 1. Clinical appearance of a selection of the patients. Note the characteristic facial phenotype with coarse face, high
cheekbones, a beaked nasal tip, a protruding lower face, a wide mouth with cupid’s-bow shaped upper lip and wide-spaced teeth.

(A) Patient 3, aged 22 months;
(B) patient 12, aged 35 months;
(C) patient 15, aged 35 months;
(D) patient 4, aged 3 years;
(E) patient 10, aged 10 years;
(F) patient 9, aged 14 years (right) and 16 years (left);
(G) patient 6, aged 17 years;
(H) patient 2, aged 17 years;
(I) patient 14, aged 18 years;
(J) patient 7, aged 20 years;
(K) patient 5, aged 20 years;
(L) MRI of patient 12 (note the bulging of the caudate nuclei);
(M) hand of patient 12.

Source: Zweier C et al. (2008) Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet 45(11):738-744.

Figure reprinted with permission from BMJ Publishing Group Ltd.
Abstract on PubMed.

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Page last modified on 18 October 2017.