Table 1.
Clinical Features of Subjects Diagnosed with CJS
| Subject | Gender | Craniosynostosis | Brain | Developmental Attainment | Eyes | Skin | Hair | GI Tract | Cutaneous Syndactyly | Polydactyly | Tumors | Other | Previously Reported? |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (SMO+) | F | RC | possible cyst in trigone of right ventricle | normal | R amblyopia; skin overgrowth | waxy, streaky lesions; nevus sebaceus | ectopic patch of hair above R eye | GI bleeding; chronic constipation | L 1/2/3 (H); R 2/3 (H) | R trifid hallux | – | asymmetric face | case 4 in Temple et al.3 |
| 2 (SMO+) | M | LC | ACC; R HMEG; R VMEG | mild delay | normal | raised, linear white streaks; normal biopsy | ectopic patch of hair near eyes | intestinal obstruction | L 2/3 (H), 3/4 (F); R 2/3/4 (H), 2/3 (F) | L and R broad thumbs, preaxial polydactyly (F) | myofibromas of large bowel | lip pits; seizures | case 1 in Temple et al.3 |
| 3 (SMO+) | M | LC | partial ACC; asymmetric dilated ventricles | mild ID; IQ < 70 | L and R microphthalmia; R iris coloboma | raised, scar-like pale lesions; non-specific biopsy | ectopic patch of hair above R eye | esophageal dysmotility | L and R 1/2/3/4 (H) | L and R bifid halluces | – | asymmetric face; fused central incisor; oligodontia; freckled areas on soles of feet; esophageal dysmotility | case 3 in Temple et al.3 |
| 4 | M | bicoronal | dilated ventricles; choroid plexus cyst | mild delay | congenital glaucoma; secondary cataract | pigmentary anomalies in Blashko’s lines, most notable on limbs | chaotic hair patterning of lateral portions of eyebrows | diarrheal episodes | L and R 2/3/4 (F) | broad halluces | – | cleft palate | no |
| 5 (SMO+) | M | none | mild ACC; L HMEG; R VMEG and PMG; occipital meningocele; Chiari I malformation | mild to moderate developmental delay | L mild colobomatous microphthalmia with unusually shaped pupil | raised, linear streaks (L arm and leg, chin, and a few other areas) | ectopic hair on cheek | malrotation; intestinal pseudo-obstruction; chronic constipation; subtotal colectomy for volvulus and obstipation | L 1/2/3/4 (H), 3/4 (F); R 2/3 (H), 3/4 (F) | L and R preaxial polydactyly (F); R thumb nubbin | desmoplastic medulloblastoma of cerebellum; odontogenic keratocysts; benign colonic polyps and smooth muscle hamartoma | large anterior fontanelle; lip pits | patient 2 in Grange et al.6 |
| 6 (SMO+) | M | none | partial ACC; MEG; VMEG; Chiari I malformation | mild delay (1–2 years behind academically) | L and R iris colobomas | hypopigmented streaky lesions | ectopic patch of hair near eyes | malrotation | L 1/2/3 (H), 1/2 (F); R 2/3 (H) | L and R preaxial polydactyly (H), preaxial polydactyly (F) | trichoblastoma; smooth muscle hamartomas of GI tract | mildly asymmetric face; lip pit | patient 1 in Grange et al.6 |
| 7 (SMO+) | M | none | normal | normal | normal | white, patchy skin behind knees | abnormal hair growth on shoulders and limbs | normal | R 1/2/3/4 (H) | L and R preaxial polydactyly (F); R: broad thumb | – | plagiocephaly | Thomas et al.5 |
| 8 (SMO+) | F | RC | partial ACC; moderate cerebral asymmetry consistent with L HMEG; PMG | mild delay | normal; dysmorphic R eyelid | linear areas of hypopigmented skin atrophy (extremities and trunk) | – | malrotation; intermittent pseudo-obstruction; serosal nodules in the appendix, mesentery, and duodenum | L and R variable 1/2/3 (H and F) | L and R duplicated thumbs and halluces | scalp lymphangiomas: benign hamartomatous lesion with features of lymphangioma and nevus sebaceus; serosal hamartomas in duodenum, appendix, and mesentery | accessory bone at anterior fontanelle; wormian bones of L posterior skull; L leg longer than R; lumbar scoliosis | no |
| 9 | F | none | ACC; dilated ventricles; macrocephaly | psychomotor delay | bilateral colobomas of iris, retina, and choroid; strabismus; nystagmus | hypopigmented patch on trunk | high frontal hairline | chronic constipation | L and R 3/4 (H) | L and R duplicated thumbs and halluces | lipomyelomeningocele | rudimentary sacral vertebrae | no |
| 10 (SMO+) | F | LC | ACC; abnormal cortical dysplasia of R perirolandic region | psychomotor delay | corneal clouding; eyelid irregularity and ectopic hairs | mostly R-sided hypo- and hyperpigmented swirling skin lesions; increased hair in hyperpigmented areas | ectopic hairs; hirsutism | dysmotility; malrotation; multiple hamartomas of small intestine | R 1/2 (H) | L and R duplicated thumbs and halluces | multiple mesenteric hamartomas with smooth muscle bundles with inter-myenteric ganglia | grade 2 hydronephrosis | no |
Abbreviations are as follows: F, female; M, male; LC, left coronal; RC, right coronal; R, right; L, left; ACC, agenesis of the corpus callosum; MEG, megalencephaly; HMEG, hemimegalencephaly; VMEG, ventriculomegaly; PMG, polymicrogyria; ID, intellectual disability; GI, gastrointestinal; H, hands; and F, feet.