Table 1

Clinical characteristics of patients studied
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

The table presents the clinical characteristics of the 35 patients studied. DD = developmental delay, ID = intellectual disability.

Siggberg et al.

Siggberg et al. BMC Medical Genetics 2012 13:84   doi:10.1186/1471-2350-13-84

Open Data