Table 2

Clinical description of individuals with variants in EVC and/or EVC2

FeaturesEVC
n=18
EVC2
n=17
EVC and EVC2
n=2
One event in EVC2
n=4
Total EVC/EVC2
n=41
Ethnic originEuropean 6/15, Lebanese 2/15, African 1/15, Algerian 1/15, China 1/15, France 1/15, Morocco 1/15, Tchetchenia 1/15, Tunisian 1/15European 4/15, Tunisian 1/15, African 1/15, France 4/15, Turkish 1/15, Guiana 1/15, Algeria 1/15, Mali 2/15Morocco 1/2, Lebanese 1/2European 3/3European 13/35, France 5/35, Lebanses 3/35, African 2/35, Algerian 2/35, Mali 2/35, Morocco 2/35, Tunisian 2/35, China 1/35, Guiana 1/35 Tchetchenia 1/35, Turkish 1/35
GenderM 11/18 F 7/18F 9/17 M 8/17M 2/2F 2/4 M 2/4M 23/41 F 18/41
Parental consanguinity6/178/151/20/315/37
CHD14/18: AVSD 5/14, complex 1/14, single ventricule 1/14, VSD 1/14, left heart hypoplasia 2/1413/16: AVSD 9/13, ASD 4/13, single atrium 4/13, left-sided superior vena cava, tetralogy of fallot 1/132/2: ASD 1/2, AVSD 1/23/4: AVSD 2/3, mitral atresia 1/3, mitral stenosis 1/332/40: ASD 5/32, AVSD 17/32, complex 1/32, single ventricule 1/32, VSD 1/32, left heart hypoplasia 2/32, single atrium 4/32, left-sided superior vena cava 1/32, tetralogy of fallot 1/32, mitral atresia 1/32, mitral stenosis 1/32
Facial features
Short/thin upper lip9/129/131/20/419/31
Short/multiple frenula5/99/141/10/315/27
Bifid tip of the tongue2/111/131/20/44/30
Absence of upper mucobuccal fold5/115/110/10/310/26
Serrated alveolar ridge4/64/100/00/38/19
Dental anomalies5/53/30/10/08/9
Short broad nose10/128/141/21/420/32
Long philtrum8/117/131/11/417/29
Postaxial polydactyly18/18: upper and lower limbs 2/8, hands only 6/817/17: upper and lower limbs 4/13, hands only 9/132/2: hands only 1/14/4: upper and lower limbs 1/2, hands only 1/241/41
Skeletal features
Brachydactyly14/1712/122/21/229/33
Short limb18/1817/172/24/441/41
Narrow chest13/1714/162/24/433/39
Nail hypoplasia12/148/102/21/323/29
Radiological features
Short tubular bones17/1817/172/24/440/41
Short ribs with narrow chest12/1615/162/24/433/41
Small iliac bones with downward spike, trident aspect of the acetabular roof13/1616/172/24/435/39
Other anomaliesCerebellar hypoplasia 1/18, IUGR 2/18, Genu
Valgum 1/18, pulmonary hypoplasia 1/18, left clubfeet 1/18, micropenis 1/18, bifidity of the supernumerary sixth digit 1/18, kidney cysts 1/18, hip dislocation 1/18
Lumbar hyperlordosis 1/18, left renal pyelic dilatation 1/18
Cerebellar hypoplasia 1/17, Horseshoe kidney 1/17, dolichocephaly 1/17, abnormal lung segmentation 1/17, nephrocalcinosis 1/17, pectus excavatum 1/17, microcephaly −3.5 SD 1/17, necrotising enterocolitis and disseminated intravascular coagulation 1/17, right suprathalamic arachnoid cyst 1/17, microspherophakia 1/17, IUGR 2/17, dandy walker malformation 1/17, cystic renal tubular dilatation 1/17, pulmonary hypoplasia 1/17, hypospadias 1/17, sparse hair 1/17Corpus callosum hypoplasia 1/2, ureteral dilatation 1/2, clubfeet 1/2Syndactyly 1/4, Bilateral clubfeet 1/4, Low-set ears 1/4, Absence of left fibulae 1/4, Metaphyseal spikes 1/4, Multicystic kidney 1/4, Retrognathism 1/4, Hypospadias 1/4IUGR 4/41, cerebellar hypoplasia 2/41, corpus callosum hypoplasia 1/41, dandy walker malformation 1/41, suprathalamic arachnoid cyst 1/41, microcephaly (−3.5 SD) 1/41, pulmonary hypoplasia 2/41, abnormal lung segmentation 1/41, kidney cysts 2/41, cystic renal tubular dilatation 1/41, left renal pyelic dilatation 1/41, ureteral dilatation 1/41, horseshoe kidney 1/41, nephrocalcinosis 1/41, hypospadias 2/41, micropenis 1/41, pectus excavatum 1/41, lumbar hyperlordosis 1/41, metaphyseal spikes 1/41, hip dislocation 1/41, genu valgum 1/41, absence of left fibulae 1/41, clubfeet 3/41, bifidity of the supernumerary sixth digit 1/41, syndactyly 1/41, dolichocephaly 1/41, Necrotising enterocolitis and disseminated intravascular coagulation 1/41, microspherophakia 1/41, sparse hair 1/41, low-set ears 1/41, retrognathism 1/41
OutcomeAlive 5/18: early childhood (2–5 years) 1/3, early adolescence (12–18 years) 1/3, senior (60+ years) 1/3
TOP 10/18
premature death 3/18
Alive 5/17: toddler (13 months–2 years) 2/4, early childhood (2–5 years) 2/4
TOP 10/16, premature death 2/16,
height −4 SD 2/4
Alive 1/2
TOP 1/2
TOP 4/4Alive 11/41, height −4 SD 2/4, normal 2/4, TOP 25/40, premature death 5/40
  • ASD, atrial septal defect; AVSD, atrioventricular septal defect; CHD, congenital heart defect; TOP, termination of pregnancy; VSD, ventricular septal defect.