Table 4 Variables collected for individual patients. Table lists all items for which patient data are sought
General variables | Required features and major distal arthrogryposis variables | Additional clinical variables |
|---|---|---|
Year of publication | Microstomia | Seizures |
Paper code (in-house tracking) | Whistling face | Magnetic resonance imaging |
Article citation (Vancouver style) | H or V-shaped chin dimple | Computed tomography scan (Give findings, if stated) |
Published diagnostic term | Prominent nasolabial folds | Electroencephalography |
Primary published diagnosis | Moderately small mouth | Developmental delay |
Reviewer diagnosis | Small prominent chin | Mental retardation |
Other diagnosis | Neck webbing | Normal intelligence |
Reason for exclusion | Ulnar deviation | Reduced anterior-posterior skull distance (radiographically) |
Paper type | Camptodactyly | Steep anterior cranial fossa (radiographically) |
Language | Hypoplastic or absent flexion creases | Bulging appearance of occiput/deep cerebellar fossa (radiographically) |
Primary provider (author) speciality | Overriding fingers at birth | Craniosynostosis |
Proband’s country | Overriding toes at birth | Microcephaly |
Patient identification (as published, to avoid potential duplication) | Talipes equinovarus | Midline facial nevus |
Patient code (in-house tracking) | Talipes calcaneovalgus | Facial asymmetry |
Year of birth | Vertical talus | Long face |
Age (years) | Metatarsus varus | Triangular face |
Karyotype results | Mask-like face | |
Inheritance status | Flat mid-face | |
Inheritance pattern | Bulging forehead | |
Parental consanguinity | Full forehead | |
Birth order | Superior blepharoptosis | |
Total number of sibship | Ophthalmoplegia | |
Maternal age at birth | Blepharophimosis | |
Paternal age at birth | Downslating palpebral fissures | |
Gestation (weeks) | Short palpebral fissures | |
Gestation (if stated as term or non-term) | Epicanthal folds | |
Mother’s pregnancy illness | Telecanthus | |
Prenatal polyhydramnios | Ocular hypertelorism | |
Cardiac abnormalities | Deep set eyes | |
Caesarean section | Prominent supracilliary ridges | |
Vaginal delivery | Symetrical subcutaneous elevations of medial frontal areas | |
Delivery complications | Impaired visual acuity | |
Breech or transverse presentation | Strabismus | |
Apgar score (first assessment) | Malar hypoplasia | |
Apgar score (second assessment) | Hypoplastic alae nasi | |
Birth weight (kg) | Small nose | |
Birth weight (if stated as ‘low’ but not given) | Broad nasal root | |
Birth height (cm) | Broad/depressed nasal bridge | |
Birth head circumference | Long philtrum | |
Postnatal growth | Microglossia | |
Failure-to-thrive | Micrognathia | |
Most recent weight (kg) | Retrognathia | |
Most recent weight (if stated as ‘low’ but not given) | Straight mandibular rami | |
Most recent stature (cm) | Dental crowding | |
Most recent stature (if stated as ‘low’ but not given) | Malocclusion | |
Most recent head circumference (cm) | High-vaulted palate | |
Age at most recent measurements (years) | Narrow palate | |
Cleft-lip/palate | ||
Low set ears | ||
Posteriorly rotated pinnae | ||
Attached ear lobules | ||
Hearing impairment | ||
Short neck | ||
Limited cervical range of motion | ||
Low hairlines | ||
Kyphosis | ||
Scoliosis | ||
Lordosis | ||
Spina bifida | ||
Other vertebral anomalies | ||
Costal abnormalities | ||
Nipple hypertelorism | ||
Pectus carinatum | ||
Pectus excvatum | ||
Hip dislocation/dysplasia | ||
Hip contracture | ||
Leg length/width discrepancy | ||
Limited knee motion/disloocation | ||
Patellar anomalies | ||
Equinovagus (talipes valgus) | ||
Contracted toes | ||
Hallux valgus or metatarsus primus Adductus or hallux varus | ||
Limited shoulder motion/dislocation | ||
Limited elbow motion/dislocation | ||
Limited wrist motion | ||
Cortical thumbs | ||
Thickened skin on fingers’ flexor surface | ||
Brachidactyly | ||
Syndactyly | ||
Cutaneous syndactyly | ||
Clinodactyly | ||
Single palmar crease | ||
Dysphasia | ||
Dysphagia | ||
Gastrointestinal symptoms | ||
Hernia | ||
Genitourinary anomalies | ||
Electromyogram | ||
Skeletal muscle weakness | ||
Muscle hypotrophy | ||
Hypotonia | ||
Hypertonia | ||
Upper airway obstruction | ||
Ear infection and chronic fluid | ||
Respiratory illness | ||
Lung disease | ||
Respiratory distress | ||
Apnoea | ||
Early death (state cause) | ||
MYBPC1 allelic variation | ||
TPM2 allelic variation | ||
TNNI2 allelic variation | ||
TNNT3 allelic variation | ||
MYH3 allelic variation | ||
Treatment | ||
Anaesthesia | ||
Ventilation | ||
Malignant hyperthermia-triggers used | ||
Intravenous access | ||
Clubfoot repair | ||
Microstomia repair | ||
Spinal surgery | ||
Splints, casting, braces, or physiotherapy | ||
Craniomaxillofacial surgery | ||
Myringotomies and pressure equalisation tube placement | ||
Other limb surgery | ||
General surgery | ||
Overall treatment outcome |