Fig. 1

Characteristics of phenotypes. (a). The proband has deciduous teeth, showing bad enamel development with severe caries (7 teeth). (b) The proband shows malformations of the thorax and short ribs. (c) The proband has downward-slanted palpebral fissures and accompanying lower eyelid entropion and trichiasis. The eyelashes are longer on the right eye than on the left eye. (d) The proband has small hands, the fingers of which are short and contracted. (e) CT shows that the narrow thorax and the sternum’s lower half deform inwardly. (f) The proband shows bilateral optic nerve hypoplasia from the examination screening wide-field digital retina imaging system (Panocam)