Figure 1.

Facial and Body Photographs of Individuals 1–4 (I1–I4) at Different Ages Show the Clinical Features and Course of GCMS

(A and F) Facial photographs of I1 at the age of 3.5 (A) and 5.5 (F) years. Note the turribrachycephaly, broad forehead, coarse parietal scalp hair, low anterior hair line, facial hypertrichosis, depressed supraorbital ridges, laterally upslanting eyebrows, severe midface hypoplasia, downslanting and short palpebral fissures, ocular proptosis, small mouth, thin upper lip, and protruding lower lip and tongue.

(B and G) Front (B) and side (G) photographs of I3 at birth show brachycephaly, a broad forehead, a depressed nasal root, midface hypoplasia, short palpebral fissures, small, round, and dysplastic ears, and a median chin crease.

(C) Frontal photograph of I3 at the age of 5 years after surgical correction of the fused coronal suture. Note the thick eyebrows, depressed supraorbital ridges with prominent glabella, deeply set eyes, depressed nasal bridge, short nose, long philtrum, thin upper lip, and prognathia.

(D, E, and J) Front (D) and side (J) facial photographs of I4 at the age of 5 months and at 1.5 years (E). In addition to the aforementioned facial features, this individual showed arched eyebrows, hypertelorism, sagging skin, and sparse parietal scalp hair. The reduction of facial adipose tissue is more pronounced at the younger age.

(H) Body photograph of I3 at the age of 5 years after surgical correction of the umbilical hernia shows thin, translucent skin, abdominal muscle hypoplasia, and a gastrostoma.

(I) Body photograph of I4 at the age of 1.5 years shows a protruding abdomen, an umbilical hernia, translucent and wrinkled skin, and reduced subcutaneous adipose tissue.

(K) Photograph of the back of I1 at the age of 5.5 years shows wrinkled skin, reduced adipose tissue, and hypertrichosis, especially in the lumbar region.

(L and M) Hand photographs of I3 (L) and I4 (M) show wrinkled skin and small distal phalanges and fingernails.

(N) Photograph of the right foot of I1 at the age of 5.5 years shows a hallux valgus and a small nail of the fifth toe.

(O) Photograph of the right foot of I3 at the age of 5 years shows a sandal gap and cutaneous 2/3 and 4/5 syndactyly of the toes.