PMC5121448_01
Dysmorphic features and cardiovascular malformations in Case 1. (a) "CHARGE ear." (b) Hockey-stick palmar crease (arrow). (c) Cleft foot. (d) 3D-CT angiography showed truncus arteriosus type A4, interrupted aortic arch type B, and aberrant origin of the right subclavian artery. AAo, ascending aorta; DAo, descending aorta; LCCA, left common carotid artery; LPA, left pulmonary artery; LSCA, left subclavian artery; PDA, patent ductus arteriosus; RCCA, right common carotid artery; RPA, right pulmonary artery; RSCA, right subclavian artery.
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fig1
He had many dysmorphic features, such as ocular coloboma, choanal atresia, ear anomaly, hearing impairment, thymic deficiency, cleft foot, cleft hand, hockey-stick palmar crease, and distinctive facial features which are square face with broad prominent forehead, "hooded eyelids," ocular hypertelorism, and micrognathia (Figure 1).
PMC5121448_02
PMC5121448_03
Dysmorphic features and cardiovascular malformations in Case 2. (a) "CHARGE ear." (b) Hockey-stick palmar crease (arrow). (c) Right ventriculography demonstrated double outlet right ventricle, interrupted aortic arch type B, and hypoplastic ascending aorta. (d) Descending aortography with balloon occlusion. Note aberrant origin of the right subclavian artery. AAo, ascending aorta; DAo, descending aorta; LCCA, left common carotid artery; LPA, left pulmonary artery; LSCA, left subclavian artery; LVA, left vertebral artery; MPA, main pulmonary artery; PDA, patent ductus arteriosus; RECA, right external carotid artery; RPA, right pulmonary artery; RSCA, right subclavian artery; RV, right ventricle; RVA, right vertebral artery.
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fig2
He had many other endocrinological disorders and dysmorphic features, that is, hypothyroidism, hypoparathyroidism, ear malformation, hearing impairment, micropenis, cryptorchidism, hockey-stick palmar crease, and distinctive facial features such as square face with broad prominent forehead and prominent nasal bridge (Figure 2).