Table 2.
Clinical features in patients with biallelic DYNC2H1 variants compared with those characterizing Ellis-van Creveld syndrome (EvC), asphyxiating thoracic dystrophy (ATD) and short-rib thoracic dysplasia type 3 (SRP3).
| Feature | 1 | 2 | 3 | 4* | 5* | 6 | 7 | 8 | ATD | EvC | SRP3 |
| Sex | F | M | M | F | F | M | F | M | |||
| Country of origin | Italy | Italy | Italy | Italy | Italy | Albany | Italy | Italy | |||
| Consanguineus parents | - | - | - | - | - | - | - | - | |||
| Age | 1 month | NA | 4 month | NA | NA | NA | NA | 1.9 years | |||
| Oral frenula | + | HLF | - | - | - | - | - | - | - | + | - |
| Dental anomalies | - | SSCT | - | HD, CT, EH | HD, CT, EH, MO | - | - | - | - | + | - |
| Dysplastic nails | - | - | STN | + | + | - | - | - | - | + | - |
| Short stature | + | + | + | + | + | + | + | - | + | + | + |
| Narrow thorax | + | + | + | + | + | + | + | + | + | + | + |
| Limb shortening | + | + | + | + | + | + | + | - | + | + | + |
| Irregular metaphyses | + | - | - | - | - | - | - | - | + | - | + |
| Vertebral anomalies | - | - | - | - | - | FVB | - | - | - | - | P |
| Pelvic abnormalities | - | - | - | - | - | SIWSLS | - | + | + | + | + |
| Hand postaxial polydactyly | B | B | B | B | B | + | + | - | Rare | + | Rare |
| Feet postaxial polydactyly | - | U | B | U | B | + | + | - | Rare | + | Rare |
| Hand brachydactyly | - | - | + | - | - | - | - | + | + | - | + |
| Hand/feet sindactyly | - | - | + | - | - | - | - | + | + | - | + |
| Cardiac defect | - | - | HLVA | pAVC, PDA | pAVC, PDA | - | - | - | TGA | + | - |
| Renal anomalies | - | - | HK, MCK | - | - | RD | HK | - | + | - | + |
| Pulmonary anomalies | PI | - | - | - | - | NA | NA | - | + | - | + |
| Gastrointestinal anomalies | - | - | - | - | - | IM | - | - | - | - | IM |
| Other anomalies | - | IH, PolyH | - | - | - | - | - | CF | |||
| Clinical diagnosis | ATD | EvC | EvC/ATD | EvC | EvC | SRPS3 | SRPS3 | EvC/SRP3 |
+, present; -, absent; *, monozygotic twins.
B bilateral, BH bilateral hydronephrosis, CF club foot, CT conical teeth, EH enamel hypoplasia, F female, FVB flattened vertebral bodies, HD hypodontia, HK hyperechogenic kidneys, HLF hypertrophic labiogingival frenulum; HLVA hypertrabeculature of left ventricle apex, IH inguinal hernia, IM intestinal malrotation, M male, MCK multicistic kidneys, MO, malocclusion, NA not available; P platyspondyly, pAVC partial atrioventricular canal, PDA, patent ductus arteriosus, PI pulmonary insufficiency PolyH polyhydramnios, RD renal dysplasia, SIWSLS small iliac wings with small lower spur, SSCT, small, sharp and conical teeth, STN short thin nails, U unilateral, TGA great vessels transposition, VC vertebral cleft.