| Defect | Reported expression of defect/features | Reference |
| (1) Hair defects | Kinky or tightly curled hair at birth | [1–3, 16–19] | Wavy hair | [7, 18] | Curly hair at birth that straightened out a few years later | [6] |
| (2) Dental defects | Yellow-brown discolored teeth | [1–6, 9, 16–18] | Thin enamel associated with hypocalcification or hypomaturation defects and enamel hypoplasia | [1–8, 12, 16–19] | Severe attrition of enamel | [1, 2, 5, 8, 16, 17, 19] | Dental abscesses | [1–4] | Taurodontism in both the primary and permanent dentitions | [13] | Taurodontism in the first permanent molar (key tooth) | [20] | Histologic sections show: | | (i) hypocalcified enamel that is decreased in thickness with enlarged pulp chambers | [2, 3, 7] | (ii) small amounts of interglobular dentin have been noted in a few teeth | [6] |
| (3) Bone changes | Sclerosis may be a variable feature. It is commonly reported in the following areas: base of the skull, mastoids and zones of provisional calcification in the long bones | [1–3, 22] |
| (4) Nail defects | Splitting of the superficial layers of the nails | [1–3, 7, 8] | Sometimes, only some toenails may be affected | [21] |
| (5) Craniofacial defects | Frontal bossing | [1, 7] | Square jaw | [1] | Mandibular prognathism | [2] | Maxillary retrusion | [29] | Dolichocephaly | [1, 9] |
| (6) Other reported abnormalities | Impacted teeth | [4, 7] | Clinodactyly | [1] | Skin lesions | [2] |
|
|