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Table 1 Clinical characteristics of patients studied

From: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results

P. Nr. Growth Head and neck Eyes and vision Ears and hearing Face Cardiovascular Genitourinary Skeletal and limb defects Neurologic Other
1. Obesity   Astigmatism      Postaxial polydactyly (one foot) Short meta-carpals V finger clino-dactyly ID Hypotonia Bardet-Biedl suspected
2          Severe DD No walk/crawl No speech Epilepsy Drooling  
3.   Dolicocephaly Narrow, prominent forehead Low, uneven hairline Epichantal folds       DD Abnormal pons Hemangiomas
4. Short stature     Low nasal bridge   Horseshoe kidney Anal atresia Small hands and feet ID Balanced t(X;13)(q28;q12)
5.     Simple ears Thick and straight eyebrows Broad nasal bridge Long philtrum Retrognathia     Autism ID Epilepsy  
6. Short stature Microcephaly Blindness Optic nerve hypoplasia      Scoliosis ID Epilepsy Severe hypotonia  
7.   Hydrocephalus        Brain malformation Severe DD  
8   Microcephaly Hypertelorism   Small nose Low nasal bridge Tented upper lip     Severe DD Severe epilepsy ATRX suspected
9.    Severe optic atrophy Impaired vision       ID Epilepsy Cortical atrophy  
10.    Mild hypertelorism Low-set ears Triangular face Small jaw High palate Thin upper lip    Hyper-extensible joints ID Autistic features Intractable epilepsy Frax-dna, SCN1A, CLN8 4p-FISH normal
11.    Upslanting palpebal fissures Large earlobes Small jaw    Clubfoot ID Autistic features Intractable epilepsy  
12.    Epichantic folds Large earlobes Flat face    Tapering fingers ID Autistic features ADHD Balanced t(2;9)(q13q22.3) de novo
13.   Macrocephaly        Severe ID Hypotonia Autism Epilepsy Inv 2(p13p25) mat., DMPK mutation negative
14.    Severe myopia Cataracta   Synophrys Curved eyebrows Upturned pinched nose Big mouth Full lips Atrial septum defect    Severe DD Epilepsy  
15.   Microcephaly Impaired vision    Ventricular septum defect    Epilepsy DD  
16.          ID Beahvioural disturbances Autism No malformation or dysmorphism
17.          ID DD  
18. Growth retardation   Hypertelorism    Mild ventricular septum defect    ID  
19. & 20.          DD No structural defects
21   Microcephaly Strabismus Missing lobuli Small nose Low nasal bridge Smooth philtrum Thin lips    Proximal thumbs Pes planus ID Intractable epilepsy Ataxia  
22. Pre- and postnatal growth retardation     Broad nasal root Short nose Bifid nasal tip   Cryptorchidism Hypoplastic scrotum Scoliosis Syndactylies Slow motor development Hypotonia Expressive language disorder Congenital contractures Dimples
23.      Mild dysmorphism     ID Epilepsy  
24.   Microcephaly Hypertelorism Epicanthic folds Disorder of visual cortex Low-set and posteriorly rotated ears Micrognathia Cleft palate     ID Epilepsy Hypoplastic cerebellar vermis Monozygotic twin, twin sister healthy
25. Tall stature Advanced bone age   Deep set eyes Hypotelorism Epicanthic folds Strabismus   Short nose Anteverted nares Tented upper lip   Cryptorchidism   ID No speech Autism Glypican-3 and PHF6 mutation analyses negative
26. Short stature         ID Intractable epilepsy Tremor Myoclonias Distal spasticity  
27. Small for Gestational Age   Downslanting palpebral fissures Strabismus   Frontal bossing    Exostosis (familial) Broad hallux Overriding toes Scoliosis ID Epilepsy Inguinal hernia
28.    Downslanting palpebral fissures Hearing impairment Coarse hair Thick eyebrows Thick lips Malposition of teeth Hypertrophic cardiomyopathy   Hip dis-placement Long thin bones Normal intelligence  
29.          Epilepsy ID Alternating hemiplegia of childhood  
30. Small for gestational age Prematurity Short stature Microcephaly Severe myopia Coloboma of papillae Optic atrophy Nystagmus Strabismus   High palate Gum hypertrophy Coarctation of aorta Inguinal hernia   ID Intractable epilepsy Hemiparesis (peri-ventricular leukomalacia)  
31.    Central blindness Nystagmus       ID Intractable epilepsy Hypotonia Distal spasticity  
32. Short stature         Normal development Vomiting Feeding difficulties
33.   Neck fistula    Dysmorphic malocclusion of teeth Uni-ventricular heart    Brain atrophy Epilepsy Simian-crease Sinus pilonidalis
34.          ID Intractable epilepsy Hypotonia Distal spasticity  
35.   Dolicocephaly Epichantic fold Simple ears Thin upper-lip Long philtrum Broad nasal bridge     ID Arnold Chiari malformation  
  1. The table presents the clinical characteristics of the 35 patients studied. DD = developmental delay, ID = intellectual disability.