A brief description of patients in this study
| Patient | CNS | Cardiac | Craniofacial | Immune | Eye/Ear | Respiratory | GI | Dermatologic | GU | Other | E/S | SNAP29M |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | PMG Microcephaly | PDA | SMCP ASCF | CI requiring IVIG IgG and IgM deficiency | ONH Nystagmus and esotropia Hypertelorism SNHL | LTM OSA Chronic peribronchial thickening with lung hyperinflation | Dysphagia and G-tube Constipation FTT | Palmoplantar keratoderma Atopic dermatitis hypohidrosis | Cryptorchid Inguinal hernia Idiopathic nephrocalcinosis Hypercalciuria | – | E,S | c.388_389insGA |
| 2 | PMG Microcephaly | – | Preauricular tags | – | ONH Amblyopia and esotropia Relative hypertelorism SNHL | Tracheomalacia | Dysphagia and G-tube Constipation | Palmoplantar keratoderma Atopic dermatitis hypohidrosis | Hypospadias | Type I DM Scoliosis | S | c.28_32delCCGTT |
| 3 | Myelo Hydrocephalus Microcephaly | TOF with PA | CP ASCF | CI | Hypertelorism Astigmatism SNHL | Subglottic stenosis Tracheostomy Asthma | Dysphagia and G-tube GORD Constipation | – | Hydronephrosis Neurogenic bladder | Hypocalcaemia Clinodactyly | S | c.265G>A |
| 4 | – | ASD/PFO | BLCLP | Low T cells | Hypertelorism CDHL | – | – | – | – | Hypocalcaemia Hypermobile joints | E | c.268C>T |
| 5 | Migraines | Valvar pulmonic stenosis | VPI | COM | – | Asthma | Dysphagia and G-tube GORD Constipation | – | – | Camptodactyly | E | – |
| 6 | Microcephaly Migraines Seizures | Syncopal event | Lambdoidal craniosynostosis Bifid uvula | CI Low IgM | Hypertelorism Lacrimal duct stenosis | Laryngeal web Sleep apnoea Asthma | GORD Abdominal migraines IBS | – | – | Short stature Scoliosis Hip dysplasia Adducted thumbs C-spine anomalies | E | – |
| 7 | Hypotonia | – | – | COM | – | OSA Asthma | Dysphagia and NG tube FTT | – | – | Short stature/low growth factors Camptodactyly Hypermobile joints | E | – |
| 8 | Heterotopias Seizures | BAV AI Heart block | ASCF NR | Haemolytic anaemia ITP COM | Hypertelorism | – | Dysphagia GORD Constipation | – | Hydrocele Inguinal hernia | Hypocalcaemia Postaxial 4 extremity polydactyly | S | – |
| 9 | PMG Hypotonia | TA | – | CI | – | – | Dysphagia G-tube GORD | – | – | Hypocalcaemia | S | – |
| 10 | Myelo Hydrocephalus Seizures | TOF with PA | NR | COM | CDHL | Recurrent aspiration | Dysphagia and G-tube | – | – | – | S | – |
| 11 | PMG | VSD and PDA | NR | COM and URIs | Eustachian tube dysfunction | Asthma | Dysphagia and NG tube GERD Constipation | Mild atopic dermatitis Cutis aplasia on scalp | – | Short stature Chronic leg pain | S | – |
| 12 | PMG Hypotonia Seizures Central apnoea | RAA ARSA ASD | ASCF | FUO MRSA | CDHL | LTM OSA Asthma | Dysphagia and G-tube GORD Constipation FTT | – | Solitary kidney | Club foot Hypermobile joints | S | – |
| 13 | PMG Subarachnoid cyst Hemiplegia | – | ASCF Nasal regurgitation | Low T cells | – | Asthma | Dysphagia Constipation | – | – | Hypocalcaemia Thyroid disease Hypermobile joints Anaemia | S | – |
| 14 | PMG Seizures | ARSA | – | – | – | Subglottic stenosis Laryngeal web | Imperforate anus Dysphagia G-tube GORD | – | Hypoplastic kidney Vesicoureteral reflux Hypospadias and chordee Penile scrotal transposition Inguinal hernia | Hip dysplasia | S | – |
| 15 | PMG Hemiparesis | Vascular ring ASD | ASCF Retrognathia | – | Astigmatism CDHL | OSA | Dysphagia FTT | – | – | Growth hormone deficiency C-spine stenosis | S | – |
| 16 | Heterotopias Seizures | ASD/PFO PDA ARSA | SMCP | JRA | SNHL | – | – | – | Duplicated collecting system | Scoliosis | S | – |
| 17 | Heterotopias Seizures Hypotonia Migraines | RAA PFO | VPI | COM IgM deficiency Pancytopenia | – | OSA Sinusitis | Dysphagia GORD Constipation | – | – | Hypothyroid Obesity Cervical spine fusion | S | – |
Note: all airway abnormalities were verified and found to be independent of vascular anomalies.
ASD, atrial septal defect; AI, aortic insufficiency; ARSA, aberrant right subclavian artery; ASCF, asymmetric crying facies; BAV, bicuspid aortic valve; BLCLP, bilateral cleft lip and palate; CP, cleft palate; CI, chronic infection; COM, chronic otitis media; CDHL, conductive hearing loss; C-spine, cervical spine; DM, diabetes mellitus; E/S, Exome (E) or Sanger (S) sequenced; FUO, fever of unknown origin; G-tube, gastrostomy tube; FTT, failure to thrive; GORD, gastro-oesophageal reflux disease; IVIG, intravenous immunoglobulins; ITP, idiopathic thrombocytopenia; IBS, irritable bowel syndrome; JRA, juvenile rheumatoid arthritis; LTM, laryngotracheomalacia; Myelo, myelomeningocele; MRSA, methicillin resistant Staphylococcus aureus; NR, nasal regurgitation; NG, nasogastric tube; OSA, obstructive sleep apnoea; ONH, optic nerve hypoplasia; PMG, polymicrogyria; PDA, patent ductus arteriosus; PA, pulmonary atresia; PFO, patent foramen ovale; RAA, right aortic arch; SMCP, submucosal cleft palate; SNHL, sensorineural hearing loss; SNAP29M, SNAP29 mutation present or absent; TOF, tetralogy of Fallot; TA, truncus arteriosus; URIs, upper respiratory infections; VSD, ventricular septal defect; VPI, velopharyngeal incompetence.