Reference | This report | This report | This report | This report | This report | This report | This report | This report | This report | This report | this report | This report | This report | This report | This report | Sutphen 1995 | Sutphen 1995 | Ozkan 2006 | Wieczorek 2007 |
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Case | 1 | 2 | 3 | 4 (AO4) SND | 5 (AO48) | 6 (AO99) | AO24 | AO63 | 7 (CHD7-048) | 8 (CHD7-142) | 9 (CHD7-296) | 10 (CHD7-376) | 11 (CHD7-305) | Mother of case 11 | 12 (CHD7-183) | 1 | 2 | III4 | |
Sex | F | M | SND | F | SND | M | SND | SND | SND | SND | SND | SND | F | F | SND | F | F | M | M |
Familiality | − | − | − | − | + | + | − | − | − | + | |||||||||
Pregnancy | PHDMS | pre-eclampsia PHDMS | Hydramnios | IUGR | − | PHDMS | Involution of DZT, PCD | T4F | PHDMS | ? | − | − | TOP | ? | PHDMS IUGR | PHDMS | PHDMS | PHDMS | PHDMS |
Term | 37−41 | 34+4 | 36 | 36.5 | 39 | 35.5 | 30.5 | 41 | 35+4 | ? | 39 | 41+3 | 29.5 | 37–41 | 38 | ? | ? | ? | 34 |
BW (SD) | 0 /+1.5 | −1.5 | −1 | −1.5 | −1 | <–2 | −1 | <−2 | −1 | IUGR | −2 | < −2 | −1 | 0/−1.5 | −2 | ? | ? | ? | −0.4 |
BL (SD) | 0/+1.5 | ? | ? | ? | <−2 | −1 | 0 | ? | 0 | ? | 0 | <−2 | 0 | 0/−1.5 | ? | ? | ? | ? | ? |
HC (SD) | −0.5/+0.5 | −1 | +0.5 | ? | −3 | <−2 | 0 | −2 | −2 | ? | −2.5 | −3 | −1.5 | ? | 0 | ? | ? | ? | ? |
Growth in SD for W, L, HC (age) | +2, +2, -1 (8y) | <−3, ?,< −3 (5m) | −2.5, −2.5, −4 (13m) | 0, 0, −2 (adult) | −2, −1, −4 (10y) | +1,+1 ,< −4 (8y) | −2, −3, −3 (3m) | −1, −1, −2 (3y) | +1, 0, −4 (4y) | +1,+3 ,< −4 (11y) | +2, 0, 0 (7y) | +1, −1.5, −2 (7y) | NR | 0, −1 ,< −2 (Adult) | +0.5,+1,+1 (2.5y) | ? | ?, ?, <−2 (1.5y) | ? | −3.5, −4.2, −5.2 (2.5y) |
Facial asymmetry | + | + | + | + | − | − | − | + | + | + | + | − | − | − | + Cayler | + | + | + | − |
Malar hypoplasia | + | + | ? | − | + | +/− | − | + | ? | + | + | + | + | − | ? | + | + | + | + |
Mandibular hypoplasia | + | + | + | + | + | +/− | − | + | + | + | − | + | + | − | ? | + | + | + | + |
Cleft palate | + | − | − | − | − | + Submucous | − | − | − | − | − | − | − | − | − | − | + | + | + |
External ears | Dysplastic | Dysplastic cup-shaped | Dysplastic low-set | Asymmetric dysplasia | Dysplastic | Dysplastic | − | Unilateral aplasia | Dysplastic | Dysplastic | − | Microtia | Dysplastic | Dysplastic | Unilateral microtia | Unilateral microtia | Cup-shaped Low-set | Unilateral microtia | Cup-shaped |
Preauricular tags | + Uni | + Uni | + Uni | − | − | − | − | − | − | − | − | − | − | + Uni | − | + Uni | + Uni | + Uni | − |
ACA/S | + Uni | ? | ? | − | + | − | − | + Uni | + Bi | + | + Uni | + Uni | ? | + Uni | + Uni | + Uni | + | + Uni | ? |
Hearing loss | + Mixed | + | +{C} | − | + Mixed | +{C} | ? | +{C} Unilateral | +{SN} | − | + | +{SN} | NR | + Mixed | + Uni | ? | + Uni | ? | + Mixed |
Choanal atresia | − | − | − | − | − | − | − | − | + | + bilateral | − | − | − | − | − | − | − | − | − |
Eyes | Hypermetropic astigmatism | ? | − | − | − | Epicanthic folds | − | − | − | − | − | Strabismus | − | − | − | Epicanthic folds | Epicanthic folds | ? | − |
DP/MD | ++ | ++ | ++ | ++ | + | + | ? | ? | ++ | ++ | + | ++ | NR | + | − | ? | ? | ? | ++ |
Epilepsy | − | − | − | − | + | − | ? | − | − | − | − | +(3y) | NR | − | − | − | − | − | − |
Heart | − | PDA | ASD | − | − | − | Innominate artery | T4F | − | ASD | ASD+ VSD+ abnl PA | − | − | − | + ASD, VSD | − | VSD | − | PDA, VSD |
Limbs | − | − | − | 2/3 Toe syndactyly, thenar hypoplasia | − | − | − | − | − | − | − | − | − | Brachydactyly | Unilateral thumb hypoplasia | − | − | Radioulnar synostosis | Clinodactyly of 4th toe |
OA | + | + | + | + Type C | + Type C | + Type C | + Type C | + Type C | + Type C | − | + | − | + Type C | − | + Type C | + Type C | + Type C | + | + Type C |
Other | +* | Unilateral pelvic kidney | − | − | CR, lacrymal duct stenosis | Unilateral LSCC agenesis | Unilateral dysplastic kidney | Hemivertebrae of C3 and T1 | LSCC agenesis | Genital anomalies tooth agenesis | Ossicle hypoplasia | Pectus carinatum | +† | Abnormal SCC | +‡ | − | − | CR Glossoptosis | Absence of zygomatic arches |
Initial diagnosis | OAVS+OA | VATER | OAVS+OA | FS | FS | CHARGE | FS | OAVS+OA | CHARGE | CHARGE | CHARGE | CHARGE | CHARGE | FS | CHARGE | OAVS+OA | OAVS+OA | PRS+OA | New syndrome |
EFTUD2 | Del | Del | c.2259+1G>A splicing | c.2619_2621 delinsGGTC | c.1705C>T | c.619+1G>A splicing | − | − | c.623A>G | c.2198G>A | c.2347+66A>G | c.670G>A | c.2823+1del splicing | c.2823+1del splicing | c.1058+3_ 1058+7del | ? | ? | ? | ? |
p.F874VfsX11 | p.R569X | p.H208R | p.W733X | p.G224R | |||||||||||||||
De novo | De novo | De novo | De novo | De novo | De novo | De novo | ? | Inherited | ? | Inherited | De novo | ? |
*Laryngeal diastema and asymptomatic bilateral vesico-ureteral reflux.
†Delayed gyration and retro thyroid thymic residues.
‡Abnormal ossicles and semicircular canals, agenesis of first cervical vertebrae, kyphoscoliosis and sacral dimple.
?, information not available; {C}, conductive; {SN}: sensorineural; ASD, atrial septal defect; BL, birth length; BW, birth weight; CR, cryptorchidism; DZT, dizygotic twin; OA, oesophageal atresia; FS, Feingold syndrome; HC, head circumference; IUGR, intrauterine growth retardation; L, length; LEC, lower eyelid cleft; LSCC, lateral semicircular canal; MFDM, mandibulofacial dysostosis with microcephaly; NR, not relevant; NT, nuchal translucency; OAVS, oculoauriculovertebral spectrum; PA, pulmonary artery; PCD, pyelocaliceal dilatation; PDA, patent ductus arteriosus; PHDMS, polyhydramnios; PPS, peripheral pulmonary stenosis; PROM, premature rupture of membranes; SND, Sex Not Disclosed (to ensure patient anonymity); T4F, tetralogy of Fallot; TOP, termination of pregnancy; VSD, ventricular septal defect; W, weight. +, phenotype present or weak phenotype; ++, moderate phenotype; +++, severe phenotype; −, no phenotype ACA/S, Auditory canal atresia/stenosis; DP/MD, Delayed psycho/motor development; Uni,Unilateral; Bi, Bilateral.