Table 1

Clinical description of all 50 individuals

FeaturesTotal EVC/EVC2
n=41
DYNC2H1 n=3DYNC2LI1 n=3SMO
n=1
PRKACB
n=1
No molecular event
n=1
Total
n=50
Familial ethnic originEuropean 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 1/35Morocco 1/1, France 1/1, European 1/1Senegal 1/1Togo/France 1/1Morocco 1/1European 1/1European 15/42, France 6/42, Morocco 4/42, Lebanses 3/42, African 2/42, Algerian 2/42, Mali 2/42, Tunisian 2/42, China 1/42, Guiana 1/42, Senegal 1/42, Tchetchenia 1/42, Turkish 1/42, Togo/France 1/42
GenderM 23/41 F 18/41M 2/3 F 1/3F 3/3M 1/1M 1/1F 1/1F 23/50 M 27/50
Parental consanguinity15/370/31/10/10/10/116/44
CHD32/40: 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 1/320/30/31/1 AVSD1/1 AVSD with single atrium and mitral anomaly1/1 AVSD35/49: ASD 5/35, AVSD 20/35, complex 1/35, single ventricule 1/35, VSD 1/35, left heart hypoplasia 2/35, single atrium 5/35, left-sided superior vena cava 1/35, tetralogy of fallot 1/35, mitral atresia 1/35, mitral stenosis 1/35
Facial features
Short/thin upper lip19/312/33/30/11/11/126/40
Short/multiple frenula15/273/33/31/11/10/123/36
Bifid tip of the tongue4/300/31/30/10/10/15/39
Absence of upper mucobuccal fold10/260/21/11/10/00/112/31
Serrated alveolar ridge8/191/11/31/10/10/011/25
Dental anomalies7/151/31/11/11/10/112/22
Short broad nose20/321/31/11/10/11/123/39
Long philtrum17/291/33/30/10/11/121/38
Postaxial polydactyly41/413/33/31/11/11/150/50
Skeletal features
Brachydactyly29/332/33/31/11/11/137/42
Short limb41/412/33/31/10/11/148/50
Narrow chest33/392/33/31/11/11/141/48
Nail hypoplasia23/293/33/31/10/10/130/38
Radiological features
Short tubular bones40/412/33/31/11/11/148/50
Short ribs with narrow chest33/412/33/31/10/11/140/47
Small iliac bones with downward spike, trident aspect of the acetabular roof35/391/33/31/10/11/141/48
Other anomaliesIUGR 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, plmonary 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 1/41Lumbar and sacral fusion 1/3, foot syndactyly 1/3Occipital canal narrowness 1/3, sparse hair 1/3, obesity 1/3Sparse hair 1/1, metacarpal fusion 1/1Myopia 1/1, genu valgum 1/1NoneIUGR 4/50, cerebellar hypoplasia 2/50, corpus callosum hypoplasia 1/50, dandy walker malformation 1/50, suprathalamic arachnoid cyst 1/50, microcephaly (−3.5 SD) 1/50, pulmonary hypoplasia 2/50, abnormal lung segmentation 1/50, kidney cysts 2/50, cystic renal tubular dilatation 1/50, left renal pyelic dilatation 1/50, ureteral dilatation 1/50, horseshoe kidney 1/50, nephrocalcinosis 1/50, hypospadias 2/50, micropenis 1/50, pectus excavatum 1/50, lumbar hyperlordosis 1/50, lumbar and sacral fusion 1/50, occipital canal narrowness 1/50, obesity 1/50, metaphyseal spikes 1/50, hip dislocation 1/50, genu valgum 2/50, absence of left fibulae 1/50, clubfeet 3/50, bifidity of the supernumerary sixth digit 1/50, syndactyly 2/50, metacarpal fusion 1/50, dolichocephaly 1/50, necrotising enterocolitis and disseminated intravascular coagulation 1/50, microspherophakia 1/50, myopia 1/50, sparse hair 3/50, low-set ears 1/50, retrognathism 1/50
Outcome
(termination of pregnancy, age, death, etc)
Alive 11/41
  • Age: toddler (13 months–2 years) 2/7, early childhood (2–5 years) 3/7, early adolescence (12–18 years) 1/7, senior (60+ years) 1/7

  • Height −4 SD 2/4 normal 2/4


TOP 25/40
Pemature death 5/40
Alive 3/3
Age: neonatal 1/3, middle childhood (6–11 years) 2/3
normal height 1/1
Alive 1/3, middle childhood (6–11 years) 1/1
Height −1 SD
Premature death postnatal (1 and 2 months) 2/3
Alive 1/1, middle childhood (6–11 years) 1/1
Height +1 SD
Alive 1/1, early adolescence (12–18 years) 1/1
Height −1.8 SD
TOPAlive 17/50
  • Age ranging from day 1 to 62 years old (median age 6 years old)

  • Height −4 SD 2/8, –1.8 SD 1/8, –1 SD 1/8, normal 3/8, +1 SD 1/8


TOP 26/49
Premature death 7/49
  • ASD, atrial septal defect; AVSD, atrioventricular septal defect; CHD, congenital heart defect; IUGR, intrauterine growth retardation; TOP, termination of pregnancy; VSD, ventricular septal defect.